Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.P90S

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
12 papers
NM_020435.4
p.P90S
c.268C>T
Surrounding Variants
1 paper
NM_020435.4
p.V92delFs
c.274delG
2 papers
NM_020435.4
p.S88T
c.262T>A
1 paper
NM_020435.4
p.I87L
c.259A>C
3 papers
NM_020435.4
p.M93V
c.277A>G
1 paper
NM_020435.4
p.M93I
c.279G>A
1 paper
NM_020435.4
p.M93I
c.279G>C
1 paper
NM_020435.4
p.M93I
c.279G>T
1 paper
NM_020435.4
p.V86I
c.256G>A
1 paper
NM_020435.4
p.Y94*
c.282C>A
1 paper
NM_020435.4
p.Y94*
c.282C>G
3 papers
NM_020435.4
p.V85A
c.254T>C
1 paper
NM_020435.4
p.V85G
c.254T>G
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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."