Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.C747fs

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.C747fs
c.2239_2240fs
Surrounding Variants
1 paper
NM_024577.4
p.A746insFs
c.2238dupC
1 paper
NM_024577.4
p.E748_L750del3
c.2242_2249del9
1 paper
NM_024577.4
p.R741_Q742delFs
c.2223_2226del4
1 paper
NM_024577.4
p.S754delFs
c.2260delT
1 paper
NM_024577.4
p.T755I
c.2264C>T
1 paper
NM_024577.4
p.Q756*
c.2266C>T
2 papers
NM_024577.4
p.C737_P738del1
c.2211_2213delGGG
1 paper
NM_024577.4
p.A758D
c.2273C>A
1 paper
NM_024577.4
p.A736V
c.2207C>T
1 paper
NM_024577.4
p.L759M
c.2275C>A
1 paper
NM_024577.4
p.L763P
c.2288T>C
1 paper
NM_024577.4
p.E731fs
c.2191_2192fs
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