Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.L289Q

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.L289Q
c.866T>A
Surrounding Variants
1 paper
NM_020435.4
p.G290delFs
c.868delG
2 papers
NM_020435.4
p.G292_S293insGTA
c.874_878ins9
13 papers
NM_020435.4
p.M286T
c.857T>C
1 paper
NM_020435.4
p.C284*
c.852T>A
2 papers
NM_020435.4
p.Q295*
c.883C>T
1 paper
NM_020435.4
p.L281insFs
c.841_842insG
1 paper
NM_020435.4
p.L281fs
c.841_842fs
1 paper
NM_020435.4
p.R299S
c.895C>A
1 paper
NM_020435.4
p.R301_A306delFs
c.902_918del17
1 paper
NM_020435.4
p.L279insFs
c.837dupG
1 paper
NM_020435.4
p.R302_A308insFs
c.905_924dup20
4 papers
NM_020435.4
p.P305_P316delFs
c.914_947del34
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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."