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Results for "TYK2"
Variant Events: 15
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
TYK2
200675647@1082034423
chr19:
10464269-10464269
C
T
exonic
De novo
nonsynonymous SNV
NM_003331
c.G2962A
p.D988N
36.0
-
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
TYK2
2-1466-003
chr19:
10495677-10495677
G
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
TYK2
657-05-104554
chr19:
10488969-10488969
G
A
exonic
De novo
synonymous SNV
NM_003331
c.C114T
p.G38G
-
2.511E-5
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
TYK2
7-0032-003
chr19:
10491147-10491147
C
T
UTR5
De novo
-
-
Yuen2017
G
TYK2
AU3787303
chr19:
10479275-10479275
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
TYK2
iHART2440
chr19:
10476311-10476312
AC
A
exonic
Paternal
frameshift deletion
NM_003331
c.892delG
p.V298fs
-
-
Ruzzo2019
G
TYK2
mAGRE2440
chr19:
10476311-10476312
AC
A
exonic
Paternal
frameshift deletion
NM_003331
c.892delG
p.V298fs
-
-
Cirnigliaro2023
G
TYK2
Chen2017:98
chr19:
10464269-10464269
C
T
exonic
De novo
nonsynonymous SNV
NM_003331
c.G2962A
p.D988N
36.0
-
Chen2017
E
TYK2
2-1436-003
chr19:
10486687-10486687
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
TYK2
SP0134547
chr19:
10465249-10465249
G
A
exonic
De novo
nonsynonymous SNV
NM_003331
c.C2654T
p.P885L
12.18
8.249E-6
Fu2022
E
Trost2022
G
Zhou2022
G
E
TYK2
A23
chr19:
10480441-10480441
C
T
intronic
De novo
-
-
Wu2018
G
TYK2
SP0091389
chr19:
10472833-10472833
C
T
exonic
De novo
nonsynonymous SNV
NM_003331
c.G1694A
p.R565Q
15.5
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
TYK2
12568.p1
chr19:
10462683-10462683
C
G
intronic
De novo
-
-
Turner2016
G
TYK2
SP0147414
chr19:
10463685-10463685
G
A
exonic
De novo
synonymous SNV
NM_003331
c.C3117T
p.I1039I
-
-
Trost2022
G
TYK2
200675647_1082034423
chr19:
10464269-10464269
C
T
exonic
De novo
nonsynonymous SNV
NM_003331
c.G2962A
p.D988N
36.0
-
Fu2022
E
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 notes
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