Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.P330delFs

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
4 papers
NM_020435.4
p.P330delFs
c.989delC
Surrounding Variants
2 papers
NM_020435.4
p.P330fs
c.988_989fs
1 paper
NM_020435.4
p.L327*
c.980T>A
1 paper
NM_020435.4
p.A328delFs
c.982delG
1 paper
NM_020435.4
p.Y333*
c.999C>A
1 paper
NM_020435.4
p.Y333*
c.999C>G
2 papers
NM_020435.4
p.A325fs
c.973_974fs
1 paper
NM_020435.4
p.L335L
c.1003C>T
3 papers
NM_020435.4
p.A324insFs
c.970_971dupGC
3 papers
NM_020435.4
p.A322A
c.966G>C
2 papers
NM_020435.4
p.A322fs
c.964_965fs
1 paper
NM_020435.4
p.P321L
c.962C>T
2 papers
NM_020435.4
p.A340G
c.1019C>G
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