Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.G149R

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.G149R
c.445G>C
Surrounding Variants
13 papers
NM_020435.4
p.G149S
c.445G>A
2 papers
NM_020435.4
p.M147T
c.440T>C
1 paper
NM_020435.4
p.M147V
c.439A>G
4 papers
NM_020435.4
p.E152del1
c.454_456delGAG
1 paper
NM_020435.4
p.E153_E157del5
c.457_470del15
1 paper
NM_020435.4
p.E158_A161insFs
c.472_481dup10
2 papers
NM_020435.4
p.W135*
c.405G>A
2 papers
NM_020435.4
p.W135*
c.404G>A
1 paper
NM_020435.4
p.E163*
c.487G>T
1 paper
NM_020435.4
p.G134fs
c.400_401fs
1 paper
NM_020435.4
p.G134delFs
c.401delG
3 papers
NM_020435.4
p.H132fs
c.394_395fs
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