Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.S48L

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
10 papers
NM_020435.4
p.S48L
c.143C>T
Surrounding Variants
1 paper
NM_020435.4
p.D49D
c.147C>T
1 paper
NM_020435.4
p.Y47H
c.139T>C
7 papers
NM_020435.4
p.I46M
c.138C>G
1 paper
NM_020435.4
p.E50*
c.148G>T
1 paper
NM_020435.4
p.E50G
c.149A>G
1 paper
NM_020435.4
p.Q51_K53delFs
c.153_157del5
6 papers
NM_020435.4
p.T55I
c.164C>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.C56S
c.166T>A
1 paper
NM_020435.4
p.A40G
c.119C>G
8 papers
NM_020435.4
p.A40V
c.119C>T
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