Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.W135*

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
Selected Variant
2 papers
NM_020435.4
p.W135*
c.405G>A
Surrounding Variants
2 papers
NM_020435.4
p.W135*
c.404G>A
1 paper
NM_020435.4
p.G134fs
c.400_401fs
1 paper
NM_020435.4
p.G134delFs
c.401delG
3 papers
NM_020435.4
p.H132fs
c.394_395fs
1 paper
NM_020435.4
p.P131fs
c.391_392fs
1 paper
NM_020435.4
p.P131fs
c.391_392fs
1 paper
NM_020435.4
p.P130fs
c.388_389fs
2 papers
NM_020435.4
p.P131insFs
c.392dupC
2 papers
NM_020435.4
p.P131delFs
c.392delC
2 papers
NM_020435.4
p.P129insFs
c.387dupG
1 paper
NM_020435.4
p.P129R
c.386C>G
1 paper
NM_020435.4
p.P129fs
c.385_386fs
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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."