Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.V274L

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.V274L
c.820G>C
Surrounding Variants
2 papers
NM_020435.4
p.V273E
c.818T>A
1 paper
NM_020435.4
p.Y272*
c.816C>A
1 paper
NM_020435.4
p.Y272*
c.816C>G
13 papers
NM_020435.4
p.Y272D
c.814T>G
1 paper
NM_020435.4
p.L269fs
c.805_806fs
1 paper
NM_020435.4
p.L279insFs
c.837dupG
1 paper
NM_020435.4
p.L281insFs
c.841_842insG
1 paper
NM_020435.4
p.L281fs
c.841_842fs
7 papers
NM_020435.4
p.T265A
c.793A>G
1 paper
NM_020435.4
p.K264R
c.791A>G
1 paper
NM_020435.4
p.C284*
c.852T>A
2 papers
NM_020435.4
p.E263K
c.787G>A
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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."