Varaico: Literature-Extracted Genetic Variants

Gene:GJD2
Variant:p.M52K

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.M52K
c.155T>A
Surrounding Variants
1 paper
NM_020660.3
p.C55S
c.163T>A
1 paper
NM_020660.3
p.C55S
c.164G>C
1 paper
NM_020660.3
p.T57I
c.170C>T
1 paper
NM_020660.3
p.D47G
c.140A>G
1 paper
NM_020660.3
p.D47A
c.140A>C
1 paper
NM_020660.3
p.T44M
c.131C>T
1 paper
NM_020660.3
p.T44A
c.130A>G
1 paper
NM_020660.3
p.C62S
c.184T>A
1 paper
NM_020660.3
p.C62S
c.185G>C
1 paper
NM_020660.3
p.N63D
c.187A>G
1 paper
NM_020660.3
p.I40F
c.118A>T
1 paper
NM_020660.3
p.I37T
c.110T>C
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