Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.Q820*

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.Q820*
c.2458C>T
Surrounding Variants
2 papers
NM_013266.4
p.V818I
c.2452G>A
1 paper
NM_013266.4
p.M815I
c.2445G>T
1 paper
NM_013266.4
p.M815I
c.2445G>C
1 paper
NM_013266.4
p.M815I
c.2445G>A
1 paper
NM_013266.4
p.L814*
c.2441T>G
1 paper
NM_013266.4
p.L814*
c.2441T>A
1 paper
NM_013266.4
p.Y826*
c.2478C>G
1 paper
NM_013266.4
p.Y826*
c.2478C>A
1 paper
NM_013266.4
p.T830_K831insFs
c.2490_2491insT
1 paper
NM_013266.4
p.R834*
c.2500C>T
2 papers
NM_013266.4
p.R834L
c.2501G>T
1 paper
NM_013266.4
p.R834Q
c.2501G>A
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