Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.A1278V

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.A1278V
c.3833C>T
Surrounding Variants
1 paper
NM_024577.4
p.A1278A
c.3834G>A
1 paper
NM_024577.4
p.R1279fs
c.3835_3836fs
1 paper
NM_024577.4
p.R1279delFs
c.3835_3836delCG
1 paper
NM_024577.4
p.D1246N
c.3736G>A
1 paper
NM_024577.4
p.A1241V
c.3722C>T
2 papers
NM_024577.4
p.A1237V
c.3710C>T
10 papers
NM_024577.4
p.D1229V
c.3686A>T
1 paper
NM_024577.4
p.K1225_D1226Splc
c.3676-1G>A
4 papers
NM_024577.4
p.K1225_D1226Splc
c.3676-8G>A
2 papers
NM_024577.4
p.G1217D
c.3650G>A
1 paper
NM_024577.4
p.Y1209F
c.3626A>T
2 papers
NM_024577.4
p.A1206D
c.3617C>A
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