Varaico: Literature-Extracted Genetic Variants

Gene:GJD2
Variant:p.E296E

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
2 papers
NM_020660.3
p.E296E
c.888G>A
Surrounding Variants
1 paper
NM_020660.3
p.S293A
c.877T>G
1 paper
NM_020660.3
p.A283S
c.847G>T
1 paper
NM_020660.3
p.G311C
c.931G>T
1 paper
NM_020660.3
p.G311V
c.932G>T
1 paper
NM_020660.3
p.R278C
c.832C>T
1 paper
NM_020660.3
p.D317A
c.950A>C
1 paper
NM_020660.3
p.D317E
c.951C>G
1 paper
NM_020660.3
p.D317E
c.951C>A
1 paper
NM_020660.3
p.A319T
c.955G>A
1 paper
NM_020660.3
p.E271K
c.811G>A
1 paper
NM_020660.3
p.C242F
c.725G>T
1 paper
NM_020660.3
p.C242R
c.724T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."