Varaico: Literature-Extracted Genetic Variants

Gene:GJC3
Variant:p.S17_G21delins

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
2 papers
NM_181538.3
p.S17_G21delins
c.51_63delinsA
Surrounding Variants
1 paper
NM_181538.3
p.R22C
c.64C>T
1 paper
NM_181538.3
p.R22H
c.65G>A
1 paper
NM_181538.3
p.G21R
c.61G>A
4 papers
NM_181538.3
p.L23H
c.68T>A
1 paper
NM_181538.3
p.T18I
c.53C>T
2 papers
NM_181538.3
p.V27M
c.79G>A
1 paper
NM_181538.3
p.R15Q
c.44G>A
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.S14G
c.40A>G
1 paper
NM_181538.3
p.E13K
c.37G>A
1 paper
NM_181538.3
p.E12insFs
c.35_36insG
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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."