Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2

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
1–12 of 436 variants
96 papers
NM_024577.4
p.R954*
c.2860C>T
49 papers
NM_024577.4
p.R1109*
c.3325C>T
18 papers
NM_024577.4
p.Y169H
c.505T>C
15 papers
NM_024577.4
p.R904*
c.2710C>T
14 papers
NM_024577.4
p.E657K
c.1969G>A
13 papers
NM_024577.4
p.R658C
c.1972C>T
10 papers
NM_024577.4
p.R1171C
c.3511C>T
10 papers
NM_024577.4
p.D1229V
c.3686A>T
9 papers
NM_024577.4
p.N881S
c.2642A>G
8 papers
NM_024577.4
p.K93K
c.279G>A
6 papers
NM_024577.4
p.R529H
c.1586G>A
6 papers
NM_024577.4
p.L1048P
c.3143T>C
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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."