Varaico: Literature-Extracted Genetic Variants

Gene:GJC3
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
3 papers
NM_181538.3
p.M1R
c.2T>G
1 paper
NM_181538.3
p.R4R
c.12G>A
1 paper
NM_181538.3
p.L10R
c.29T>G
1 paper
NM_181538.3
p.E12insFs
c.35_36insG
1 paper
NM_181538.3
p.E13K
c.37G>A
1 paper
NM_181538.3
p.S14G
c.40A>G
2 papers
NM_181538.3
p.R15W
c.43C>T
11 papers
NM_181538.3
p.R15G
c.43C>G
1 paper
NM_181538.3
p.R15Q
c.44G>A
1 paper
NM_181538.3
p.T18I
c.53C>T
1 paper
NM_181538.3
p.G21R
c.61G>A
2 papers
NM_181538.3
p.S17_G21delins
c.51_63delinsA
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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."