Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.P313L

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.P313L
c.938C>T
Surrounding Variants
4 papers
NM_020435.4
p.P316L
c.947C>T
1 paper
NM_020435.4
p.A310fs
c.928_929fs
1 paper
NM_020435.4
p.P311delFs
c.932delC
2 papers
NM_020435.4
p.P309fs
c.925_926fs
1 paper
NM_020435.4
p.P309A
c.925C>G
2 papers
NM_020435.4
p.P309fs
c.925_926fs
1 paper
NM_020435.4
p.C318fs
c.952_953fs
1 paper
NM_020435.4
p.A308insFs
c.924dupC
2 papers
NM_020435.4
p.P311_P317insFs
c.932_951dup20
2 papers
NM_020435.4
p.P309_P313delFs
c.925_938del14
1 paper
NM_020435.4
p.P321L
c.962C>T
1 paper
NM_020435.4
p.P305fs
c.913_914fs
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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."