Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.I490R

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.I490R
c.1469T>G
Surrounding Variants
1 paper
NM_013266.4
p.V492F
c.1474G>T
1 paper
NM_013266.4
p.N488D
c.1462A>G
1 paper
NM_013266.4
p.T485T
c.1455A>G
3 papers
NM_013266.4
p.T485S
c.1453A>T
2 papers
NM_013266.4
p.R484H
c.1451G>A
5 papers
NM_013266.4
p.R484C
c.1450C>T
1 paper
NM_013266.4
p.K483R
c.1448A>G
1 paper
NM_013266.4
p.I503L
c.1507A>C
1 paper
NM_013266.4
p.D505N
c.1513G>A
1 paper
NM_013266.4
p.A508V
c.1523C>T
1 paper
NM_013266.4
p.A468P
c.1402G>C
2 papers
NM_013266.4
p.I460T
c.1379T>C
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