Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.A153_F154Splc

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.A153_F154Splc
c.460-4642A>G
Surrounding Variants
4 papers
NM_013266.4
p.S160T
c.478T>A
1 paper
NM_013266.4
p.Q171insFs
c.512_513insGC
1 paper
NM_013266.4
p.K176N
c.528G>T
1 paper
NM_013266.4
p.K176N
c.528G>C
1 paper
NM_013266.4
p.E180V
c.539A>T
1 paper
NM_013266.4
p.L181M
c.541C>A
1 paper
NM_013266.4
p.Q192*
c.574C>T
2 papers
NM_013266.4
p.Q193R
c.578A>G
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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."