Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.F491fs

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.F491fs
c.1471_1472fs
Surrounding Variants
2 papers
NM_024577.4
p.S490_F491delFs
c.1470_1473del4
1 paper
NM_024577.4
p.F491fs
c.1471_1472fs
1 paper
NM_024577.4
p.K484M
c.1451A>T
1 paper
NM_024577.4
p.F483V
c.1447T>G
1 paper
NM_024577.4
p.D481D
c.1443C>T
1 paper
NM_024577.4
p.E506fs
c.1516_1517fs
1 paper
NM_024577.4
p.E506delFs
c.1517_1518delCT
1 paper
NM_024577.4
p.L474P
c.1421T>C
1 paper
NM_024577.4
p.Y510S
c.1529A>C
1 paper
NM_024577.4
p.L471delFs
c.1412delA
5 papers
NM_024577.4
p.A468V
c.1403C>T
1 paper
NM_024577.4
p.A468Fs
c.1403delinsTTFs
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."