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Results for "PASK"

Variant Events: 50

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
PASK     220-9870-202 Complex Event; expand row to view variants  Maternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
NM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.1940delG
c.1835delG
c.1940delG
c.1940delG
c.1940delG
c.1941delG
c.1836delG
c.1941delG
c.1941delG
c.1941delG
p.W647fs
p.W612fs
p.W647fs
p.W647fs
p.W647fs
p.W647fs
p.W612fs
p.W647fs
p.W647fs
p.W647fs
--Stessman2017 T
Wang2020 T
Wang2020 T
PASK     G01-GEA-182-HIchr2:
242077398-242077398
CGsplicing;exonicDe novononsynonymous SNVNM_001252119
NM_001252124
NM_015148
NM_001252120
c.G846C
c.G846C
c.G846C
c.G846C
p.Q282H
p.Q282H
p.Q282H
p.Q282H
16.49-Lim2017 E
Satterstrom2020 E
PASK     AU019303 Complex Event; expand row to view variants  Inherited, Unknownframeshift insertionNM_001252119
NM_001252122
NM_015148
NM_001252120
NM_001252119
NM_001252122
NM_015148
NM_001252120
c.3497dupT
c.3371dupT
c.3476dupT
c.3476dupT
c.3499dupT
c.3373dupT
c.3478dupT
c.3478dupT
p.F1166fs
p.F1124fs
p.F1159fs
p.F1159fs
p.Y1167fs
p.Y1125fs
p.Y1160fs
p.Y1160fs
--Stessman2017 T
Wang2020 T
Wang2020 T
PASK     Li2017:19628chr2:
242072401-242072401
GAexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C1351T
c.C1246T
c.C1351T
c.C1351T
c.C1351T
p.R451X
p.R416X
p.R451X
p.R451X
p.R451X
42.03.0E-4Li2017 T
PASK     SD0137.p1chr2:
242065839-242065843
CCAAACexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.2487_2490del
c.2382_2385del
c.2487_2490del
c.2487_2490del
c.2487_2490del
p.C829fs
p.C794fs
p.C829fs
p.C829fs
p.C829fs
--Wang2020 T
Wang2020 T
PASK     BK_722.01chr2:
242062182-242062182
CAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.G3037T
c.G2932T
c.G3037T
c.G3037T
c.G3037T
p.V1013L
p.V978L
p.V1013L
p.V1013L
p.V1013L
27.3-Wang2020 T
PASK     217-14268-3910chr2:
242080086-242080087
AGAexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.278delC
c.278delC
c.278delC
c.278delC
c.278delC
p.P93fs
p.P93fs
p.P93fs
p.P93fs
p.P93fs
--Wang2020 T
Wang2020 T
PASK     13073.p1chr2:
242046718-242046718
GAintronicDe novo-1.647E-5Satterstrom2020 E
PASK     217-14389-4980chr2:
242080086-242080087
AGAexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.278delC
c.278delC
c.278delC
c.278delC
c.278delC
p.P93fs
p.P93fs
p.P93fs
p.P93fs
p.P93fs
--Wang2020 T
Wang2020 T
Wang2020 T
PASK     M17532chr2:
242051689-242051689
CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120
c.G3520A
c.G3394A
c.G3499A
c.G3499A
p.E1174K
p.E1132K
p.E1167K
p.E1167K
25.98.247E-6Wang2020 T
Wang2020 T
PASK     GX0306.p1chr2:
242047581-242047581
CAsplicingMaternalsplicing12.55-Guo2018 T
Wang2020 T
Wang2020 T
PASK     GX0363.p1chr2:
242046867-242046867
GAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120
c.C3736T
c.C3610T
c.C3715T
c.C3715T
p.R1246C
p.R1204C
p.R1239C
p.R1239C
22.53.295E-5Wang2020 T
Wang2020 T
Wang2020 T
PASK     GD0025.p1chr2:
242078087-242078087
CTexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.G723A
c.G723A
c.G723A
c.G723A
c.G723A
p.W241X
p.W241X
p.W241X
p.W241X
p.W241X
39.02.472E-5Wang2020 T
Wang2020 T
PASK     211-5274-3chr2:
242051855-242051855
CTsplicingUnknownsplicing14.42-Wang2020 T
Wang2020 T
PASK     HEN442.p1chr2:
242066538-242066538
TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC
p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs
--Wang2020 T
Wang2020 T
Wang2020 T
PASK     SX0059.p1chr2:
242066538-242066538
TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC
p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs
--Wang2020 T
Wang2020 T
Wang2020 T
PASK     M12492chr2:
242078107-242078107
CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.G703A
c.G703A
c.G703A
c.G703A
c.G703A
p.V235M
p.V235M
p.V235M
p.V235M
p.V235M
23.31.648E-5Wang2020 T
Wang2020 T
PASK     M27801chr2:
242078107-242078107
CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.G703A
c.G703A
c.G703A
c.G703A
c.G703A
p.V235M
p.V235M
p.V235M
p.V235M
p.V235M
23.31.648E-5Wang2020 T
Wang2020 T
Wang2020 T
PASK     AU054103chr2:
242051688-242051692
TCGATCexonicPaternal, Unknownframeshift substitutionNM_001252119
NM_001252122
NM_015148
NM_001252120
c.3517_3521G
c.3391_3395G
c.3496_3500G
c.3496_3500G
N/A
N/A
N/A
N/A
--Stessman2017 T
Wang2020 T
Wang2020 T
PASK     M17585 Complex Event; expand row to view variants  Paternalsynonymous SNV, frameshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
NM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.1403dupA
c.1298dupA
c.1403dupA
c.1403dupA
c.1403dupA
c.G1404A
c.G1299A
c.G1404A
c.G1404A
c.G1404A
p.Q468fs
p.Q433fs
p.Q468fs
p.Q468fs
p.Q468fs
p.Q468Q
p.Q433Q
p.Q468Q
p.Q468Q
p.Q468Q
--Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
PASK     DEASD_0314_001chr2:
242065977-242065977
GAexonicDe novostopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C2353T
c.C2248T
c.C2353T
c.C2353T
c.C2353T
p.Q785X
p.Q750X
p.Q785X
p.Q785X
p.Q785X
43.0-Lim2017 E
PASK     M26879 Complex Event; expand row to view variants  Maternalframeshift deletion, frameshift substitutionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
NM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.2030delT
c.1925delT
c.2030delT
c.2030delT
c.2030delT
c.2030_2031A
c.1925_1926A
c.2030_2031A
c.2030_2031A
c.2030_2031A
p.V677fs
p.V642fs
p.V677fs
p.V677fs
p.V677fs
N/A
N/A
N/A
N/A
N/A
--Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
PASK     GX0507.p1chr2:
242063452-242063452
GCexonicPaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C2816G
c.C2711G
c.C2816G
c.C2816G
c.C2816G
p.S939X
p.S904X
p.S939X
p.S939X
p.S939X
46.01.667E-5Guo2018 T
Wang2020 T
Wang2020 T
PASK     GX0076.p1chr2:
242065860-242065870
CTGTTGGATCACexonicPaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.2460_2469del
c.2355_2364del
c.2460_2469del
c.2460_2469del
c.2460_2469del
p.H820fs
p.H785fs
p.H820fs
p.H820fs
p.H820fs
--Guo2018 T
Wang2020 T
Wang2020 T
PASK     82662495chr2:
242046866-242046866
CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120
c.G3737A
c.G3611A
c.G3716A
c.G3716A
p.R1246H
p.R1204H
p.R1239H
p.R1239H
32.0-Wang2020 T
Wang2020 T
PASK     00100-C4D5Jchr2:
242047704-242047704
GAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120
c.C3566T
c.C3440T
c.C3545T
c.C3545T
p.P1189L
p.P1147L
p.P1182L
p.P1182L
25.28.249E-5Wang2020 T
Wang2020 T
PASK     A25chr2:
242054738-242054738
TCexonicDe novononsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.A3163G
c.A3058G
c.A3163G
c.A3163G
c.A3163G
p.I1055V
p.I1020V
p.I1055V
p.I1055V
p.I1055V
18.391.649E-5Wu2018 G
PASK     00194-E6P3Pchr2:
242051776-242051776
CAexonicUnknownstopgainNM_001252119
NM_001252122
NM_015148
NM_001252120
c.G3433T
c.G3307T
c.G3412T
c.G3412T
p.E1145X
p.E1103X
p.E1138X
p.E1138X
46.04.944E-5Wang2020 T
Wang2020 T
PASK     60307063chr2:
242046915-242046915
CTsplicingUnknownsplicing18.61-Wang2020 T
Wang2020 T
PASK     iHART2888chr2:
242065968-242065970
CCTCexonicMaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.2360_2361del
c.2255_2256del
c.2360_2361del
c.2360_2361del
c.2360_2361del
p.Q787fs
p.Q752fs
p.Q787fs
p.Q787fs
p.Q787fs
--Ruzzo2019 G
PASK     M18485chr2:
242066136-242066136
GAexonicPaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C2194T
c.C2089T
c.C2194T
c.C2194T
c.C2194T
p.Q732X
p.Q697X
p.Q732X
p.Q732X
p.Q732X
43.08.282E-6Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
PASK     00129-D2Q2Wchr2:
242082440-242082441
TCTexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.7delG
c.7delG
c.7delG
c.7delG
c.7delG
p.D3fs
p.D3fs
p.D3fs
p.D3fs
p.D3fs
-8.3E-6Wang2020 T
Wang2020 T
PASK     M19628chr2:
242072401-242072401
GAexonicPaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C1351T
c.C1246T
c.C1351T
c.C1351T
c.C1351T
p.R451X
p.R416X
p.R451X
p.R451X
p.R451X
42.03.0E-4Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
PASK     428.03chr2:
242077444-242077445
TCTexonicUnknownframeshift deletionNM_001252119
NM_001252124
NM_015148
NM_001252120
c.799delG
c.799delG
c.799delG
c.799delG
p.E267fs
p.E267fs
p.E267fs
p.E267fs
-8.248E-6Wang2020 T
Wang2020 T
PASK     63655229chr2:
242065722-242065722
GAexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C2608T
c.C2503T
c.C2608T
c.C2608T
c.C2608T
p.Q870X
p.Q835X
p.Q870X
p.Q870X
p.Q870X
44.0-Wang2020 T
Wang2020 T
PASK     217-14289-4100chr2:
242078125-242078125
CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.G685A
c.G685A
c.G685A
c.G685A
c.G685A
p.V229M
p.V229M
p.V229M
p.V229M
p.V229M
23.7-Stessman2017 T
Wang2020 T
Wang2020 T
PASK     BK_722_01chr2:
242062182-242062182
CAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.G3037T
c.G2932T
c.G3037T
c.G3037T
c.G3037T
p.V1013L
p.V978L
p.V1013L
p.V1013L
p.V1013L
27.3-Wang2020 T
PASK     226_2_a.2.1chr2:
242082329-242082329
GTexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C119A
c.C119A
c.C119A
c.C119A
c.C119A
p.S40X
p.S40X
p.S40X
p.S40X
p.S40X
41.0-Wang2020 T
Wang2020 T
PASK     EGAN00001101026chr2:
242079053-242079053
ACintronicDe novo-8.0E-4Satterstrom2020 E
PASK     469.03chr2:
242066370-242066370
GAexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C1960T
c.C1855T
c.C1960T
c.C1960T
c.C1960T
p.R654X
p.R619X
p.R654X
p.R654X
p.R654X
43.03.301E-5Wang2020 T
Wang2020 T
PASK     A26chr2:
242046908-242046908
AGexonicDe novononsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120
c.T3695C
c.T3569C
c.T3674C
c.T3674C
p.M1232T
p.M1190T
p.M1225T
p.M1225T
11.551.0E-4Wu2018 G
PASK     SD0079.p1chr2:
242063549-242063549
CAsplicingMaternalsplicing9.391.77E-5Guo2018 T
Wang2020 T
Wang2020 T
PASK     217-14366-980 Complex Event; expand row to view variants  Inherited, Unknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
NM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.2949delG
c.2844delG
c.2949delG
c.2949delG
c.2949delG
c.2950delG
c.2845delG
c.2950delG
c.2950delG
c.2950delG
p.V983fs
p.V948fs
p.V983fs
p.V983fs
p.V983fs
p.E984fs
p.E949fs
p.E984fs
p.E984fs
p.E984fs
--Stessman2017 T
Wang2020 T
Wang2020 T
PASK     HEN0076.p1chr2:
242066299-242066300
GAGexonicPaternal, Unknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.2030delT
c.1925delT
c.2030delT
c.2030delT
c.2030delT
p.V677fs
p.V642fs
p.V677fs
p.V677fs
p.V677fs
--Guo2018 T
Wang2020 T
Wang2020 T
Wang2020 T
PASK     JS0037.p1chr2:
242066215-242066215
GTexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C2115A
c.C2010A
c.C2115A
c.C2115A
c.C2115A
p.C705X
p.C670X
p.C705X
p.C705X
p.C705X
41.0-Guo2018 T
Wang2020 T
Wang2020 T
PASK     JS0041.p1chr2:
242066538-242066538
TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC
p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs
--Guo2018 T
Wang2020 T
Wang2020 T
PASK     BK804-01chr2:
242046867-242046867
GAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120
c.C3736T
c.C3610T
c.C3715T
c.C3715T
p.R1246C
p.R1204C
p.R1239C
p.R1239C
22.53.295E-5Wang2020 T
Wang2020 T
PASK     Li2017:18485chr2:
242066136-242066136
GAexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C2194T
c.C2089T
c.C2194T
c.C2194T
c.C2194T
p.Q732X
p.Q697X
p.Q732X
p.Q732X
p.Q732X
43.08.282E-6Li2017 T
PASK     6257chr2:
242077366-242077366
AACsplicingUnknownsplicing-5.767E-5Wang2020 T
Wang2020 T
PASK     5912chr2:
242054462-242054462
CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.G3329A
c.G3224A
c.G3329A
c.G3329A
c.G3329A
p.R1110Q
p.R1075Q
p.R1110Q
p.R1110Q
p.R1110Q
36.03.299E-5Wang2020 T
Wang2020 T
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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