Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.S419Y

SH3TC2

374 papers

RefSeq Summary

This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to...

Pfam Domains

SH3_1aa 274–323UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 domain and tetratricopeptide repeats 2

HGNC Alias Symbols

KIAA1985; CMT4C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024577.4
p.S419Y
c.1256C>A
Surrounding Variants
1 paper
NM_024577.4
p.S419delFs
c.1255delA
1 paper
NM_024577.4
p.S419P
c.1255T>C
1 paper
NM_024577.4
p.S420G
c.1258A>G
1 paper
NM_024577.4
p.Q418*
c.1252C>T
1 paper
NM_024577.4
p.G415_R417del3
c.1243_1250del9
1 paper
NM_024577.4
p.R417*
c.1249A>T
2 papers
NM_024577.4
p.E429*
c.1285G>T
1 paper
NM_024577.4
p.E430Q
c.1288G>C
3 papers
NM_024577.4
p.S433L
c.1298C>T
1 paper
NM_024577.4
p.P404L
c.1211C>T
1 paper
NM_024577.4
p.R403_P404insT
c.1207_1211ins3
1 paper
NM_024577.4
p.V402I
c.1204G>A
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