Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.A219S

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.A219S
c.655G>T
Surrounding Variants
1 paper
NM_020435.4
p.A219_R220del2
c.655_659del6
2 papers
NM_020435.4
p.R220G
c.658A>G
1 paper
NM_020435.4
p.V218_A219insT
c.652_656ins3
1 paper
NM_020435.4
p.A221T
c.661G>A
1 paper
NM_020435.4
p.Q216*
c.646C>T
1 paper
NM_020435.4
p.A215V
c.644C>T
1 paper
NM_020435.4
p.R211C
c.631C>T
2 papers
NM_020435.4
p.F227C
c.680T>G
5 papers
NM_020435.4
p.M210R
c.629T>G
1 paper
NM_020435.4
p.L209Q
c.626T>A
3 papers
NM_020435.4
p.G230delFs
c.689delG
1 paper
NM_020435.4
p.G208D
c.623G>A
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