Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.V24A

GJA1

843 papers

RefSeq Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of...

Pfam Domains

Connexinaa 3–233UCSCConnexin
Connexin43aa 283–361UCSCGap junction alpha-1 protein (Cx43)

Gene Aliases

HGNC Name

gap junction protein alpha 1

HGNC Previous Symbols

ODDD; GJAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_000165.5
p.V24A
c.71T>C
Surrounding Variants
12 papers
NM_000165.5
p.K23T
c.68A>C
3 papers
NM_000165.5
p.W25C
c.75G>C
3 papers
NM_000165.5
p.W25C
c.75G>T
17 papers
NM_000165.5
p.G22E
c.65G>A
2 papers
NM_000165.5
p.L26P
c.77T>C
4 papers
NM_000165.5
p.G22R
c.64G>A
4 papers
NM_000165.5
p.G22R
c.64G>C
11 papers
NM_000165.5
p.S27P
c.79T>C
48 papers
NM_000165.5
p.G21R
c.61G>A
49 papers
NM_000165.5
p.G21R
c.61G>C
1 paper
NM_000165.5
p.A20T
c.58G>A
2 papers
NM_000165.5
p.F30V
c.88T>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."