Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.L31P

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.L31P
c.92T>C
Surrounding Variants
1 paper
NM_020435.4
p.L31R
c.92T>G
1 paper
NM_020435.4
p.L31L
c.93G>C
1 paper
NM_020435.4
p.V30L
c.88G>C
3 papers
NM_020435.4
p.V33V
c.99C>G
2 papers
NM_020435.4
p.L28P
c.83T>C
1 paper
NM_020435.4
p.T29insFs
c.85_86dupAC
1 paper
NM_020435.4
p.L28fs
c.82_83fs
2 papers
NM_020435.4
p.R35C
c.103C>T
3 papers
NM_020435.4
p.W27*
c.81G>A
3 papers
NM_020435.4
p.W27*
c.80G>A
1 paper
NM_020435.4
p.R35H
c.104G>A
1 paper
NM_020435.4
p.I36del1
c.106_108delATC
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