Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.V81G

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.V81G
c.242T>G
Surrounding Variants
1 paper
NM_020435.4
p.I84F
c.250A>T
1 paper
NM_020435.4
p.F79del1
c.235_236delTTC
1 paper
NM_020435.4
p.I84S
c.251T>G
1 paper
NM_020435.4
p.V85M
c.253G>A
3 papers
NM_020435.4
p.V85A
c.254T>C
1 paper
NM_020435.4
p.V85G
c.254T>G
1 paper
NM_020435.4
p.V86I
c.256G>A
1 paper
NM_020435.4
p.I87L
c.259A>C
2 papers
NM_020435.4
p.S88T
c.262T>A
1 paper
NM_020435.4
p.L74fs
c.220_221fs
1 paper
NM_020435.4
p.L74L
c.220C>T
1 paper
NM_020435.4
p.P73P
c.219C>G
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