Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.V79A

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.V79A
c.236T>C
Surrounding Variants
1 paper
NM_000165.5
p.V79G
c.236T>G
2 papers
NM_000165.5
p.V79I
c.235G>A
5 papers
NM_000165.5
p.V79L
c.235G>C
1 paper
NM_000165.5
p.L80L
c.238C>T
1 paper
NM_000165.5
p.Q81_V85del0
c.241_255del15
1 paper
NM_000165.5
p.W78*
c.233G>A
1 paper
NM_000165.5
p.W78L
c.233G>T
1 paper
NM_000165.5
p.L80P
c.239T>C
1 paper
NM_000165.5
p.Q81insFs
c.242dupA
1 paper
NM_000165.5
p.I82fs
c.244_245fs
1 paper
NM_000165.5
p.I82V
c.244A>G
27 papers
NM_000165.5
p.R76H
c.227G>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."