Varaico: Literature-Extracted Genetic Variants

Gene:GJC3

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
1–12 of 71 variants
11 papers
NM_181538.3
p.R15G
c.43C>G
6 papers
NM_181538.3
p.W77S
c.230G>C
4 papers
NM_181538.3
p.L23H
c.68T>A
4 papers
NM_181538.3
p.V261Splc
c.781+62G>A
4 papers
NM_181538.3
p.E269D
c.807A>T
4 papers
NM_181538.3
p.E269D
c.807A>C
3 papers
NM_181538.3
p.M1R
c.2T>G
2 papers
NM_181538.3
p.R15W
c.43C>T
2 papers
NM_181538.3
p.S17_G21delins
c.51_63delinsA
2 papers
NM_181538.3
p.V27M
c.79G>A
2 papers
NM_181538.3
p.R32L
c.95G>T
2 papers
NM_181538.3
p.A37T
c.109G>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."