Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.G21R

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
49 papers
NM_000165.5
p.G21R
c.61G>C
Surrounding Variants
48 papers
NM_000165.5
p.G21R
c.61G>A
4 papers
NM_000165.5
p.G22R
c.64G>A
1 paper
NM_000165.5
p.A20T
c.58G>A
4 papers
NM_000165.5
p.G22R
c.64G>C
17 papers
NM_000165.5
p.G22E
c.65G>A
12 papers
NM_000165.5
p.K23T
c.68A>C
1 paper
NM_000165.5
p.S18L
c.53C>T
17 papers
NM_000165.5
p.S18P
c.52T>C
10 papers
NM_000165.5
p.V24A
c.71T>C
45 papers
NM_000165.5
p.Y17S
c.50A>C
1 paper
NM_000165.5
p.Y17_G21delins
c.51_63delinsA
1 paper
NM_000165.5
p.Y17H
c.49T>C
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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."