Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.S45F

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.S45F
c.134C>T
Surrounding Variants
2 papers
NM_013266.4
p.S45P
c.133T>C
1 paper
NM_013266.4
p.P44A
c.130C>G
1 paper
NM_013266.4
p.G50fs
c.148_149fs
1 paper
NM_013266.4
p.R51S
c.151C>A
1 paper
NM_013266.4
p.G50_R51delFs
c.148_151del4
1 paper
NM_013266.4
p.S52L
c.155C>T
1 paper
NM_013266.4
p.K72E
c.214A>G
1 paper
NM_013266.4
p.K75N
c.225G>C
2 papers
NM_013266.4
p.Q78*
c.232C>T
1 paper
NM_013266.4
p.T81R
c.242C>G
1 paper
NM_013266.4
p.D85_E86delFs
c.253_256del4
1 paper
NM_013266.4
p.E93K
c.277G>A
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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."