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Results for "VRK2"

Variant Events: 25

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
VRK2     AU005214chr2:
58138841-58138841
ATintronicDe novo--Trost2022 G
Yuen2017 G
VRK2     1-1058-003chr2:
58219107-58219107
ATintronicDe novo--Trost2022 G
VRK2     5-5027-003chr2:
58309172-58309172
CTintronicDe novo--Trost2022 G
VRK2     4-0062-003chr2:
58168553-58168553
TAintronicDe novo--Trost2022 G
VRK2     2-1398-003chr2:
58176665-58176666
TGATintronicDe novo--Trost2022 G
VRK2     5-5014-003chr2:
58159588-58159588
AGintronicDe novo--Trost2022 G
VRK2     MSSNG00350-003chr2:
58165186-58165186
CTintronicDe novo--Trost2022 G
VRK2     11002.p1chr2:
58238110-58238110
CGintronicDe novo--Turner2016 G
VRK2     11002.p1chr2:
58310173-58310173
TGintronicDe novo--Turner2016 G
VRK2     AU3765303chr2:
58323175-58323175
AGintronicDe novo--Trost2022 G
Yuen2017 G
VRK2     74-0688chr2:
58231224-58231224
TAintronicDe novo--Michaelson2012 G
VRK2     REACH000735chr2:
58344509-58344509
GAintronicDe novo--Trost2022 G
VRK2     1-0018-004chr2:
58347359-58347359
TCintronicDe novo--Trost2022 G
VRK2     74-0355chr2:
58288502-58288502
TAintronicDe novo--Michaelson2012 G
VRK2     MT_13.3chr2:
58310545-58310545
CGintronicDe novo--Trost2022 G
VRK2     7-0328-003chr2:
58314607-58314607
CTintronicDe novo--Trost2022 G
VRK2     mAGRE5443chr2:
58362335-58362335
GAsplicingMaternalsplicing24.31.648E-5Cirnigliaro2023 G
VRK2     mAGRE5442chr2:
58362335-58362335
GAsplicingMaternalsplicing24.31.648E-5Cirnigliaro2023 G
VRK2     7-0254-003chr2:
58185323-58185323
TCintronicDe novo--Trost2022 G
Yuen2017 G
VRK2     AU060403chr2:
58283018-58283018
TCintronicDe novo--Trost2022 G
Yuen2017 G
VRK2     AU062204chr2:
58224826-58224826
TCintronicDe novo--Trost2022 G
Yuen2017 G
VRK2     1-0721-003chr2:
58386773-58386773
GAexonicnonsynonymous SNVNM_001288839
NM_001130480
NM_001130481
NM_001130482
NM_006296
NM_001288836
NM_001288837
c.G1118A
c.G1472A
c.G1472A
c.G1403A
c.G1472A
c.G1118A
c.G1472A
p.R373H
p.R491H
p.R491H
p.R468H
p.R491H
p.R373H
p.R491H
7.8394.0E-4Zhou2022 GE
VRK2     AU058105chr2:
58345437-58345437
GAintronicDe novo--Yuen2017 G
VRK2     SP0042592chr2:
58316729-58316729
TCintronicDe novo--Fu2022 E
VRK2     AU4164301 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
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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