Varaico: Literature-Extracted Genetic Variants

Gene:GJD2
Variant:p.T111T

GJD2

84 papers

RefSeq Summary

This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap juncti...

Pfam Domains

Connexinaa 3–277UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein delta 2

HGNC Alias Symbol

CX36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020660.3
p.T111T
c.333A>T
Surrounding Variants
1 paper
NM_020660.3
p.R107C
c.319C>T
1 paper
NM_020660.3
p.R107G
c.319C>G
1 paper
NM_020660.3
p.E106K
c.316G>A
1 paper
NM_020660.3
p.P121T
c.361C>A
4 papers
NM_020660.3
p.S123S
c.369C>T
1 paper
NM_020660.3
p.P127T
c.379C>A
2 papers
NM_020660.3
p.G138R
c.412G>C
1 paper
NM_020660.3
p.N147N
c.441T>C
1 paper
NM_020660.3
p.I73M
c.219C>G
1 paper
NM_020660.3
p.R69R
c.207C>T
1 paper
NM_020660.3
p.E158K
c.472G>A
1 paper
NM_020660.3
p.N63D
c.187A>G
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