Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.R208*

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
2 papers
NM_013266.4
p.R208*
c.622C>T
Surrounding Variants
1 paper
NM_013266.4
p.P198A
c.592C>G
2 papers
NM_013266.4
p.P198T
c.592C>A
1 paper
NM_013266.4
p.L218*
c.653T>A
1 paper
NM_013266.4
p.D194N
c.580G>A
1 paper
NM_013266.4
p.Q193_D194Splc
c.580-8C>T
1 paper
NM_013266.4
p.A232P
c.694G>C
1 paper
NM_013266.4
p.T240A
c.718A>G
2 papers
NM_013266.4
p.A248S
c.742G>T
1 paper
NM_013266.4
p.N250S
c.749A>G
1 paper
NM_013266.4
p.I252T
c.755T>C
1 paper
NM_013266.4
p.I252Fs
c.755delinsAACFs
1 paper
NM_013266.4
p.A255V
c.764C>T
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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."