Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.E207fs

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.E207fs
c.619_620fs
Surrounding Variants
2 papers
NM_020435.4
p.E207delFs
c.620delA
1 paper
NM_020435.4
p.G208D
c.623G>A
1 paper
NM_020435.4
p.G208V
c.623G>T
1 paper
NM_020435.4
p.L209Q
c.626T>A
5 papers
NM_020435.4
p.M210R
c.629T>G
2 papers
NM_020435.4
p.R203H
c.608G>A
1 paper
NM_020435.4
p.R211C
c.631C>T
1 paper
NM_020435.4
p.G200E
c.599G>A
1 paper
NM_020435.4
p.G200R
c.598G>A
1 paper
NM_020435.4
p.G200R
c.598G>C
1 paper
NM_020435.4
p.H198H
c.594C>T
1 paper
NM_020435.4
p.A215V
c.644C>T
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