Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.N63S

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
3 papers
NM_000165.5
p.N63S
c.188A>G
Surrounding Variants
1 paper
NM_000165.5
p.N63N
c.189T>C
1 paper
NM_000165.5
p.N63_V64ins7
c.189_190ins21
3 papers
NM_000165.5
p.V64A
c.191T>C
7 papers
NM_000165.5
p.V64G
c.191T>G
1 paper
NM_000165.5
p.V64V
c.192C>A
1 paper
NM_000165.5
p.E62_F70ins3
c.184_210dup27
2 papers
NM_000165.5
p.C61S
c.182G>C
2 papers
NM_000165.5
p.C61S
c.181T>A
1 paper
NM_000165.5
p.Y66H
c.196T>C
1 paper
NM_000165.5
p.G60D
c.179G>A
74 papers
NM_000165.5
p.G60S
c.178G>A
3 papers
NM_000165.5
p.G60R
c.178G>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."