Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.R658C

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
13 papers
NM_024577.4
p.R658C
c.1972C>T
Surrounding Variants
4 papers
NM_024577.4
p.R658H
c.1973G>A
14 papers
NM_024577.4
p.E657K
c.1969G>A
3 papers
NM_024577.4
p.L661P
c.1982T>C
1 paper
NM_024577.4
p.L662P
c.1985T>C
1 paper
NM_024577.4
p.E650K
c.1948G>A
3 papers
NM_024577.4
p.R648W
c.1942C>T
1 paper
NM_024577.4
p.L646L
c.1936C>T
1 paper
NM_024577.4
p.S645G
c.1933A>G
1 paper
NM_024577.4
p.A673T
c.2017G>A
1 paper
NM_024577.4
p.R641L
c.1922G>T
3 papers
NM_024577.4
p.R641H
c.1922G>A
1 paper
NM_024577.4
p.C636_R641delins
c.1906_1923delinsAGGGCC
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