Varaico: Literature-Extracted Genetic Variants

Gene:GJD2
Variant:p.L214P

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.L214P
c.641T>C
Surrounding Variants
1 paper
NM_020660.3
p.R206Q
c.617G>A
1 paper
NM_020660.3
p.P226S
c.676C>T
1 paper
NM_020660.3
p.E230K
c.688G>A
1 paper
NM_020660.3
p.E230A
c.689A>C
1 paper
NM_020660.3
p.C231S
c.691T>A
1 paper
NM_020660.3
p.C231S
c.692G>C
1 paper
NM_020660.3
p.R197C
c.589C>T
5 papers
NM_020660.3
p.S196S
c.588C>T
1 paper
NM_020660.3
p.S196F
c.587C>T
1 paper
NM_020660.3
p.R233C
c.697C>T
1 paper
NM_020660.3
p.I195M
c.585C>G
1 paper
NM_020660.3
p.C236W
c.708C>G
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