Varaico: Literature-Extracted Genetic Variants

Gene:GJC2

GJC2

216 papers

RefSeq Summary

This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gen...

Pfam Domains

Connexinaa 5–291UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein gamma 2

HGNC Previous Symbol

GJA12

Papers
RefSeq ID
Protein change
DNA change
1–12 of 292 variants
13 papers
NM_020435.4
p.G149S
c.445G>A
13 papers
NM_020435.4
p.Y272D
c.814T>G
13 papers
NM_020435.4
p.M286T
c.857T>C
12 papers
NM_020435.4
p.P90S
c.268C>T
10 papers
NM_020435.4
p.S48L
c.143C>T
9 papers
NM_020435.4
p.T398I
c.1193C>T
8 papers
NM_020435.4
p.A40V
c.119C>T
8 papers
NM_020435.4
p.G236S
c.706G>A
8 papers
NM_020435.4
p.R260C
c.778C>T
7 papers
NM_020435.4
p.I36M
c.108C>G
7 papers
NM_020435.4
p.I46M
c.138C>G
7 papers
NM_020435.4
p.G236R
c.706G>C
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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."