Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.E112V

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.E112V
c.335A>T
Surrounding Variants
2 papers
NM_000165.5
p.E112K
c.334G>A
1 paper
NM_000165.5
p.E111V
c.332A>T
15 papers
NM_000165.5
p.L113P
c.338T>C
2 papers
NM_000165.5
p.E110E
c.330G>A
7 papers
NM_000165.5
p.E110D
c.330G>C
7 papers
NM_000165.5
p.E110D
c.330G>T
1 paper
NM_000165.5
p.K114R
c.341A>G
1 paper
NM_000165.5
p.V115A
c.344T>C
2 papers
NM_000165.5
p.A116T
c.346G>A
1 paper
NM_000165.5
p.A116P
c.346G>C
1 paper
NM_000165.5
p.A116V
c.347C>T
1 paper
NM_000165.5
p.Q117R
c.350A>G
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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."