Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3

CTNNA3

269 papers

RefSeq Summary

This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhyt...

Pfam Domains

Vinculinaa 17–856UCSCVinculin family

Gene Aliases

HGNC Name

catenin alpha 3

HGNC Alias Symbols

VR22; MGC26194

Papers
RefSeq ID
Protein change
DNA change
1–12 of 319 variants
15 papers
NM_013266.4
p.S596N
c.1787G>A
8 papers
NM_013266.4
p.V94D
c.281T>A
6 papers
NM_013266.4
p.I617T
c.1850T>C
5 papers
NM_013266.4
p.R484C
c.1450C>T
5 papers
NM_013266.4
p.L765del1
c.2293_2294delCAA
5 papers
NM_013266.4
p.I880insFs
c.2638dupA
4 papers
NM_013266.4
p.S160T
c.478T>A
4 papers
NM_013266.4
p.M435V
c.1303A>G
4 papers
NM_013266.4
p.R535C
c.1603C>T
4 papers
NM_013266.4
p.I880fs
c.2638_2639fs
3 papers
NM_013266.4
p.H150R
c.449A>G
3 papers
NM_013266.4
p.P266S
c.796C>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."