Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.G183C

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.G183C
c.547G>T
Surrounding Variants
1 paper
NM_020435.4
p.A184_A189delFs
c.550_566del17
2 papers
NM_020435.4
p.V182fs
c.544_545fs
1 paper
NM_020435.4
p.D185_A188delFs
c.554_564del11
1 paper
NM_020435.4
p.G186delFs
c.556delG
1 paper
NM_020435.4
p.G186S
c.556G>A
3 papers
NM_020435.4
p.G186C
c.556G>T
1 paper
NM_020435.4
p.T179P
c.535A>C
1 paper
NM_020435.4
p.E176E
c.528G>A
1 paper
NM_020435.4
p.E176Q
c.526G>C
2 papers
NM_020435.4
p.T191insFs
c.571_572insC
2 papers
NM_020435.4
p.T191fs
c.571_572fs
1 paper
NM_020435.4
p.E175insFs
c.523dupG
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