Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.R628_T629Splc

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.R628_T629Splc
c.1884+1G>A
Surrounding Variants
1 paper
NM_013266.4
p.R628P
c.1883G>C
1 paper
NM_013266.4
p.R628W
c.1882C>T
1 paper
NM_013266.4
p.R628_T629Splc
c.1884+5G>A
1 paper
NM_013266.4
p.C622F
c.1865G>T
2 papers
NM_013266.4
p.C622Y
c.1865G>A
3 papers
NM_013266.4
p.H618R
c.1853A>G
6 papers
NM_013266.4
p.I617T
c.1850T>C
1 paper
NM_013266.4
p.Y614C
c.1841A>G
1 paper
NM_013266.4
p.K612N
c.1836G>T
1 paper
NM_013266.4
p.K612N
c.1836G>C
1 paper
NM_013266.4
p.S610*
c.1829C>G
1 paper
NM_013266.4
p.S610*
c.1829C>A
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