Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.C245S

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
3 papers
NM_020435.4
p.C245S
c.733T>A
Surrounding Variants
2 papers
NM_020435.4
p.C245S
c.734G>C
4 papers
NM_020435.4
p.C245*
c.735C>A
1 paper
NM_020435.4
p.P249S
c.745C>T
3 papers
NM_020435.4
p.P249R
c.746C>G
7 papers
NM_020435.4
p.R240*
c.718C>T
3 papers
NM_020435.4
p.V239A
c.716T>C
1 paper
NM_020435.4
p.H252D
c.754C>G
1 paper
NM_020435.4
p.E238K
c.712G>A
3 papers
NM_020435.4
p.H252R
c.755A>G
1 paper
NM_020435.4
p.F237V
c.709T>G
8 papers
NM_020435.4
p.G236S
c.706G>A
4 papers
NM_020435.4
p.V254M
c.760G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."