Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.S645G

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.S645G
c.1933A>G
Surrounding Variants
1 paper
NM_024577.4
p.L646L
c.1936C>T
3 papers
NM_024577.4
p.R648W
c.1942C>T
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
1 paper
NM_024577.4
p.E650K
c.1948G>A
2 papers
NM_024577.4
p.L638delFs
c.1914delC
2 papers
NM_024577.4
p.A639fs
c.1915_1916fs
1 paper
NM_024577.4
p.A633fs
c.1897_1898fs
1 paper
NM_024577.4
p.A633delFs
c.1897delC
1 paper
NM_024577.4
p.E632_A633delFs
c.1894_1897del4
14 papers
NM_024577.4
p.E657K
c.1969G>A
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