Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.G236R

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
7 papers
NM_020435.4
p.G236R
c.706G>C
Surrounding Variants
8 papers
NM_020435.4
p.G236S
c.706G>A
2 papers
NM_020435.4
p.Y235C
c.704A>G
1 paper
NM_020435.4
p.F237V
c.709T>G
1 paper
NM_020435.4
p.E238K
c.712G>A
2 papers
NM_020435.4
p.Y232*
c.696C>A
2 papers
NM_020435.4
p.Y232*
c.696C>G
3 papers
NM_020435.4
p.V239A
c.716T>C
1 paper
NM_020435.4
p.Y232insFs
c.695_696insG
1 paper
NM_020435.4
p.Y232insFs
c.695_696ins1
1 paper
NM_020435.4
p.Y232C
c.695A>G
7 papers
NM_020435.4
p.R240*
c.718C>T
2 papers
NM_020435.4
p.G230fs
c.688_689fs
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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."