Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.A40V

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
8 papers
NM_020435.4
p.A40V
c.119C>T
Surrounding Variants
1 paper
NM_020435.4
p.A40G
c.119C>G
1 paper
NM_020435.4
p.A40T
c.118G>A
2 papers
NM_020435.4
p.A40P
c.118G>C
1 paper
NM_020435.4
p.A40S
c.118G>T
2 papers
NM_020435.4
p.V41L
c.121G>C
3 papers
NM_020435.4
p.V41L
c.121G>T
2 papers
NM_020435.4
p.T39M
c.116C>T
1 paper
NM_020435.4
p.T39_K53delFs
c.117_157del41
1 paper
NM_020435.4
p.T39A
c.115A>G
1 paper
NM_020435.4
p.L38R
c.113T>G
2 papers
NM_020435.4
p.V37E
c.110T>A
1 paper
NM_020435.4
p.V37M
c.109G>A
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