Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.V583A

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
Selected Variant
1 paper
NM_013266.4
p.V583A
c.1748T>C
Surrounding Variants
1 paper
NM_013266.4
p.V578Splc
c.1733-1G>C
1 paper
NM_013266.4
p.A592S
c.1774G>T
1 paper
NM_013266.4
p.A592T
c.1774G>A
1 paper
NM_013266.4
p.A592G
c.1775C>G
1 paper
NM_013266.4
p.A592D
c.1775C>A
1 paper
NM_013266.4
p.A592A
c.1776C>T
1 paper
NM_013266.4
p.S594R
c.1780A>C
1 paper
NM_013266.4
p.S594R
c.1782C>G
1 paper
NM_013266.4
p.S594R
c.1782C>A
15 papers
NM_013266.4
p.S596N
c.1787G>A
1 paper
NM_013266.4
p.S596delins
c.1787_1788delinsAT
1 paper
NM_013266.4
p.D602Y
c.1804G>T
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