Varaico: Literature-Extracted Genetic Variants

Gene:GJD2

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
1–12 of 73 variants
5 papers
NM_020660.3
p.S196S
c.588C>T
4 papers
NM_020660.3
p.S123S
c.369C>T
3 papers
NM_020660.3
p.E8Q
c.22G>C
2 papers
NM_020660.3
p.G2V
c.5G>T
2 papers
NM_020660.3
p.E3Q
c.7G>C
2 papers
NM_020660.3
p.L7V
c.19T>G
2 papers
NM_020660.3
p.L11P
c.32T>C
2 papers
NM_020660.3
p.G138R
c.412G>C
2 papers
NM_020660.3
p.K238E
c.712A>G
2 papers
NM_020660.3
p.E296E
c.888G>A
1 paper
NM_020660.3
p.M1del1
c.1_2delCAT
1 paper
NM_020660.3
p.T5S
c.13A>T
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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."