Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.R535C

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
4 papers
NM_013266.4
p.R535C
c.1603C>T
Surrounding Variants
2 papers
NM_013266.4
p.R535H
c.1604G>A
2 papers
NM_013266.4
p.A537V
c.1610C>T
1 paper
NM_013266.4
p.G538D
c.1613G>A
1 paper
NM_013266.4
p.I540fs
c.1618_1619fs
1 paper
NM_013266.4
p.R543Q
c.1628G>A
1 paper
NM_013266.4
p.A524D
c.1571C>A
1 paper
NM_013266.4
p.A548delFs
c.1643delG
1 paper
NM_013266.4
p.C521R
c.1561T>C
1 paper
NM_013266.4
p.K520N
c.1560G>T
1 paper
NM_013266.4
p.K520N
c.1560G>C
1 paper
NM_013266.4
p.V551I
c.1651G>A
1 paper
NM_013266.4
p.H513Y
c.1537C>T
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