Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.R116H

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
1 paper
NM_020435.4
p.R116H
c.347G>A
Surrounding Variants
1 paper
NM_020435.4
p.R115L
c.344G>T
1 paper
NM_020435.4
p.A113T
c.337G>A
2 papers
NM_020435.4
p.P124_P131insFs
c.371_392dup22
1 paper
NM_020435.4
p.E109*
c.325G>T
4 papers
NM_020435.4
p.R125*
c.373C>T
1 paper
NM_020435.4
p.Q108_R111del4
c.322_332del12
1 paper
NM_020435.4
p.E107insFs
c.320_321insC
4 papers
NM_020435.4
p.R125Q
c.374G>A
1 paper
NM_020435.4
p.S106_Q108del3
c.316_323del9
2 papers
NM_020435.4
p.P129delFs
c.386delC
1 paper
NM_020435.4
p.P129fs
c.385_386fs
2 papers
NM_020435.4
p.P129insFs
c.387dupG
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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."