Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.V216M

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.V216M
c.646G>A
Surrounding Variants
30 papers
NM_000165.5
p.V216L
c.646G>C
30 papers
NM_000165.5
p.V216L
c.646G>T
1 paper
NM_000165.5
p.V215M
c.643G>A
1 paper
NM_000165.5
p.L214P
c.641T>C
10 papers
NM_000165.5
p.M213L
c.637A>C
10 papers
NM_000165.5
p.M213L
c.637A>T
1 paper
NM_000165.5
p.V219M
c.655G>A
1 paper
NM_000165.5
p.V219A
c.656T>C
1 paper
NM_000165.5
p.S220delFs
c.658_659delTC
1 paper
NM_000165.5
p.F212Y
c.635T>A
2 papers
NM_000165.5
p.F212I
c.634T>A
7 papers
NM_000165.5
p.S220Y
c.659C>A
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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."