Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.Y97*

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
2 papers
NM_020435.4
p.Y97*
c.291C>G
Surrounding Variants
2 papers
NM_020435.4
p.Y97*
c.291C>A
2 papers
NM_020435.4
p.A98ins1
c.292_293insGTA
1 paper
NM_020435.4
p.A98ins1
c.292_293ins3
1 paper
NM_020435.4
p.A98G
c.293C>G
1 paper
NM_020435.4
p.G96V
c.287G>T
1 paper
NM_020435.4
p.L95L
c.285G>A
2 papers
NM_020435.4
p.H100Y
c.298C>T
4 papers
NM_020435.4
p.L95R
c.284T>G
1 paper
NM_020435.4
p.H100L
c.299A>T
1 paper
NM_020435.4
p.Y94*
c.282C>A
1 paper
NM_020435.4
p.Y94*
c.282C>G
1 paper
NM_020435.4
p.R101S
c.301C>A
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