Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.A343V

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.A343V
c.1028C>T
Surrounding Variants
1 paper
NM_020435.4
p.R344L
c.1031G>T
1 paper
NM_020435.4
p.E341A
c.1022A>C
2 papers
NM_020435.4
p.A340G
c.1019C>G
1 paper
NM_020435.4
p.A340V
c.1019C>T
1 paper
NM_020435.4
p.L335L
c.1003C>T
1 paper
NM_020435.4
p.Y333*
c.999C>A
1 paper
NM_020435.4
p.Y333*
c.999C>G
1 paper
NM_020435.4
p.L353P
c.1058T>C
3 papers
NM_020435.4
p.Q356K
c.1066C>A
2 papers
NM_020435.4
p.P330fs
c.988_989fs
1 paper
NM_020435.4
p.A357V
c.1070C>T
4 papers
NM_020435.4
p.P330delFs
c.989delC
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