Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.S259P

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.S259P
c.775T>C
Surrounding Variants
1 paper
NM_020435.4
p.S259S
c.777G>A
8 papers
NM_020435.4
p.R260C
c.778C>T
1 paper
NM_020435.4
p.T262P
c.784A>C
2 papers
NM_020435.4
p.T262A
c.784A>G
2 papers
NM_020435.4
p.E263K
c.787G>A
1 paper
NM_020435.4
p.V254V
c.762G>T
4 papers
NM_020435.4
p.V254M
c.760G>A
1 paper
NM_020435.4
p.K264R
c.791A>G
7 papers
NM_020435.4
p.T265A
c.793A>G
3 papers
NM_020435.4
p.H252R
c.755A>G
1 paper
NM_020435.4
p.H252D
c.754C>G
3 papers
NM_020435.4
p.P249R
c.746C>G
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."