Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC1
Variant:p.K1251_D1252Splc

SH3TC1

118 papers

Pfam Domains

SH3_1aa 311–358UCSCSH3 domain
SH3_1aa 311–358UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 domain and tetratricopeptide repeats 1

HGNC Alias Symbol

FLJ20356

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018986.5
p.K1251_D1252Splc
c.3753+2T>G
Surrounding Variants
1 paper
NM_018986.5
p.K1251M
c.3752A>T
1 paper
NM_018986.5
p.F1247_Y1248del1
c.3740_3742delTCT
1 paper
NM_018986.5
p.G1243S
c.3727G>A
1 paper
NM_018986.5
p.L1219R
c.3656T>G
2 papers
NM_018986.5
p.L1198V
c.3592C>G
1 paper
NM_018986.5
p.R1188Q
c.3563G>A
1 paper
NM_018986.5
p.T1164M
c.3491C>T
1 paper
NM_018986.5
p.A1150A
c.3450G>A
1 paper
NM_018986.5
p.K1149R
c.3446A>G
1 paper
NM_018986.5
p.R1137W
c.3409C>T
1 paper
NM_018986.5
p.V1131M
c.3391G>A
2 papers
NM_018986.5
p.A1130T
c.3388G>A
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