Varaico: Literature-Extracted Genetic Variants

Gene:GJC3
Variant:p.V43I

GJC3

72 papers

RefSeq Summary

This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutatio...

Pfam Domains

Connexinaa 2–215UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein gamma 3

HGNC Alias Symbols

CX30.2; CX29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181538.3
p.V43I
c.127G>A
Surrounding Variants
1 paper
NM_181538.3
p.E47K
c.139G>A
2 papers
NM_181538.3
p.A37T
c.109G>A
1 paper
NM_181538.3
p.V34A
c.101T>C
2 papers
NM_181538.3
p.R32L
c.95G>T
1 paper
NM_181538.3
p.R32H
c.95G>A
1 paper
NM_181538.3
p.R32C
c.94C>T
1 paper
NM_181538.3
p.T55I
c.164C>T
2 papers
NM_181538.3
p.G59R
c.175G>C
2 papers
NM_181538.3
p.V27M
c.79G>A
1 paper
NM_181538.3
p.G59S
c.175G>A
1 paper
NM_181538.3
p.G59A
c.176G>C
1 paper
NM_181538.3
p.K61R
c.182A>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."