Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.V289L

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.V289L
c.865G>C
Surrounding Variants
5 papers
NM_000165.5
p.V289D
c.866T>A
1 paper
NM_000165.5
p.T290delFs
c.868delA
10 papers
NM_000165.5
p.T290N
c.869C>A
2 papers
NM_000165.5
p.K287R
c.860A>G
1 paper
NM_000165.5
p.Y286F
c.857A>T
1 paper
NM_000165.5
p.G285A
c.854G>C
1 paper
NM_000165.5
p.G285R
c.853G>A
1 paper
NM_000165.5
p.G285R
c.853G>C
1 paper
NM_000165.5
p.R293S
c.879A>T
2 papers
NM_000165.5
p.P284S
c.850C>T
20 papers
NM_000165.5
p.P283L
c.848C>T
1 paper
NM_000165.5
p.N294N
c.882C>T
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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."