Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.L221V

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.L221V
c.661C>G
Surrounding Variants
1 paper
NM_000165.5
p.L221L
c.661C>T
7 papers
NM_000165.5
p.S220Y
c.659C>A
1 paper
NM_000165.5
p.S220delFs
c.658_659delTC
1 paper
NM_000165.5
p.V219A
c.656T>C
1 paper
NM_000165.5
p.V219M
c.655G>A
1 paper
NM_000165.5
p.L223M
c.667T>A
1 paper
NM_000165.5
p.L223fs
c.667_668fs
1 paper
NM_000165.5
p.N224insFs
c.670_671insA
1 paper
NM_000165.5
p.I225I
c.675C>T
1 paper
NM_000165.5
p.V216M
c.646G>A
30 papers
NM_000165.5
p.V216L
c.646G>C
30 papers
NM_000165.5
p.V216L
c.646G>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."