Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.H938R

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.H938R
c.2813A>G
Surrounding Variants
2 papers
NM_024577.4
p.H938Y
c.2812C>T
3 papers
NM_024577.4
p.Y943*
c.2829T>G
3 papers
NM_024577.4
p.Y943*
c.2829T>A
1 paper
NM_024577.4
p.E944G
c.2831A>G
2 papers
NM_024577.4
p.Q928*
c.2782C>T
1 paper
NM_024577.4
p.G950V
c.2849G>T
4 papers
NM_024577.4
p.W925*
c.2775G>A
4 papers
NM_024577.4
p.W925*
c.2774G>A
96 papers
NM_024577.4
p.R954*
c.2860C>T
1 paper
NM_024577.4
p.R954Q
c.2861G>A
2 papers
NM_024577.4
p.S958delFs
c.2872delT
15 papers
NM_024577.4
p.R904*
c.2710C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."