Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.E865G

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.E865G
c.2594A>G
Surrounding Variants
1 paper
NM_013266.4
p.I859L
c.2575A>C
2 papers
NM_013266.4
p.L858S
c.2573T>C
1 paper
NM_013266.4
p.R873*
c.2617C>T
1 paper
NM_013266.4
p.A854delFs
c.2562delT
1 paper
NM_013266.4
p.A876V
c.2627C>T
2 papers
NM_013266.4
p.A852S
c.2554G>T
1 paper
NM_013266.4
p.M850I
c.2550G>T
1 paper
NM_013266.4
p.M850I
c.2550G>C
1 paper
NM_013266.4
p.M850I
c.2550G>A
4 papers
NM_013266.4
p.I880fs
c.2638_2639fs
5 papers
NM_013266.4
p.I880insFs
c.2638dupA
1 paper
NM_013266.4
p.P882L
c.2645C>T
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