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Results for "MAPK3"

Variant Events: 11

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
MAPK3     Schaaf2011:34chr16:
30128063-30128063
GAexonicUnknownnonsynonymous SNVNM_001109891
NM_002746
c.C934T
c.C1066T
p.P312S
p.P356S
13.891.659E-5Schaaf2011 T
MAPK3     197_1_a.2.1chr16:
30127990-30127990
TCexonicUnknownstoplossNM_001109891
NM_002746
c.A1007G
c.A1139G
p.X336W
p.X380W
11.318.395E-6Wang2020 T
Wang2020 T
MAPK3     Schaaf2011:35chr16:
30133167-30133167
TGexonicUnknownnonsynonymous SNVNM_001040056
NM_001109891
NM_002746
c.A331C
c.A331C
c.A331C
p.T111P
p.T111P
p.T111P
18.71-Schaaf2011 T
MAPK3     60234013chr16:
30129792-30129792
CTexonicDe novononsynonymous SNVNM_001040056
NM_001109891
NM_002746
c.G421A
c.G421A
c.G421A
p.D141N
p.D141N
p.D141N
36.0-Wang2020 T
Wang2020 T
MAPK3     197_3_a.2.1chr16:
30127990-30127990
TCexonicUnknownstoplossNM_001109891
NM_002746
c.A1007G
c.A1139G
p.X336W
p.X380W
11.318.395E-6Wang2020 T
Wang2020 T
MAPK3     AU2089302chr16:
30189163-30189163
GAintergenicDe novo--Yuen2017 G
MAPK3     U8G3Vchr16:
30129852-30129852
CTexonicMaternalnonsynonymous SNVNM_001040056
NM_001109891
NM_002746
c.G361A
c.G361A
c.G361A
p.V121M
p.V121M
p.V121M
29.9-Wang2020 T
Wang2020 T
MAPK3     AC01-0069-01chr16:
30128162-30128162
GAexonicDe novononsynonymous SNVNM_001040056c.C1070Tp.T357M5.1191.678E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MAPK3     AU4465303chr16:
30156454-30156462
ATATATTATATATintergenicDe novo--Yuen2017 G
MAPK3     09C82566chr16:
30128549-30128549
CTexonicDe novononsynonymous SNVNM_001040056
NM_002746
c.G833A
c.G833A
p.R278Q
p.R278Q
36.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
MAPK3     E9R8Hchr16:
30133308-30133308
GAexonicUnknownnonsynonymous SNVNM_001040056
NM_001109891
NM_002746
c.C190T
c.C190T
c.C190T
p.R64C
p.R64C
p.R64C
28.5-Wang2020 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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