Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.D124E

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
1 paper
NM_000165.5
p.D124E
c.372C>A
Surrounding Variants
1 paper
NM_000165.5
p.D124E
c.372C>G
1 paper
NM_000165.5
p.M125L
c.373A>C
1 paper
NM_000165.5
p.M125L
c.373A>T
2 papers
NM_000165.5
p.V123V
c.369G>A
1 paper
NM_000165.5
p.V123M
c.367G>A
2 papers
NM_000165.5
p.N122N
c.366T>C
1 paper
NM_000165.5
p.N122H
c.364A>C
1 paper
NM_000165.5
p.L127L
c.381G>A
1 paper
NM_000165.5
p.V121D
c.362T>A
1 paper
NM_000165.5
p.V121A
c.362T>C
1 paper
NM_000165.5
p.N122_D124del3
c.364_371del9
1 paper
NM_000165.5
p.D119A
c.356A>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."