Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.Q1164H

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.Q1164H
c.3492A>T
Surrounding Variants
1 paper
NM_024577.4
p.Q1164H
c.3492A>C
1 paper
NM_024577.4
p.Q1164_F1169del0
c.3492_3506del15
10 papers
NM_024577.4
p.R1171C
c.3511C>T
2 papers
NM_024577.4
p.R1171L
c.3512G>T
1 paper
NM_024577.4
p.Y1182*
c.3546T>G
2 papers
NM_024577.4
p.Y1182*
c.3546T>A
3 papers
NM_024577.4
p.M1184V
c.3550A>G
2 papers
NM_024577.4
p.P1198P
c.3594A>G
1 paper
NM_024577.4
p.P1198P
c.3594A>C
3 papers
NM_024577.4
p.W1199*
c.3596G>A
3 papers
NM_024577.4
p.W1199*
c.3597G>A
3 papers
NM_024577.4
p.Q1201*
c.3601C>T
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