Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.Y510S

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.Y510S
c.1529A>C
Surrounding Variants
1 paper
NM_024577.4
p.E506delFs
c.1517_1518delCT
1 paper
NM_024577.4
p.E506fs
c.1516_1517fs
1 paper
NM_024577.4
p.K516*
c.1546A>T
1 paper
NM_024577.4
p.A518delFs
c.1552delC
1 paper
NM_024577.4
p.M523T
c.1568T>C
1 paper
NM_024577.4
p.A528V
c.1583C>T
2 papers
NM_024577.4
p.S490_F491delFs
c.1470_1473del4
1 paper
NM_024577.4
p.R529C
c.1585C>T
1 paper
NM_024577.4
p.F491fs
c.1471_1472fs
6 papers
NM_024577.4
p.R529H
c.1586G>A
2 papers
NM_024577.4
p.R529R
c.1587T>G
1 paper
NM_024577.4
p.R529delins
c.1586_1587delinsAG
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