Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.P88H

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.P88H
c.263C>A
Surrounding Variants
3 papers
NM_000165.5
p.P88L
c.263C>T
5 papers
NM_000165.5
p.P88T
c.262C>A
12 papers
NM_000165.5
p.P88S
c.262C>T
1 paper
NM_000165.5
p.P88P
c.264C>T
1 paper
NM_000165.5
p.T89P
c.265A>C
1 paper
NM_000165.5
p.T89K
c.266C>A
2 papers
NM_000165.5
p.T89I
c.266C>T
1 paper
NM_000165.5
p.V87L
c.259G>C
33 papers
NM_000165.5
p.L90V
c.268C>G
1 paper
NM_000165.5
p.L90F
c.268C>T
1 paper
NM_000165.5
p.L90delFs
c.269delT
5 papers
NM_000165.5
p.S86Y
c.257C>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."