Varaico: Literature-Extracted Genetic Variants

Gene:GJE1

GJE1

25 papers

Pfam Domains

Connexinaa 2–110UCSCConnexin
Connexinaa 105–196UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein epsilon 1

HGNC Alias Symbol

CX23

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
3 papers
NM_001358410.2
p.G45E
c.134G>A
1 paper
NM_001358410.2
p.G12insFs
c.35_36insG
1 paper
NM_001358410.2
p.G12delFs
c.35delG
1 paper
NM_001358410.2
p.R32Q
c.95G>A
1 paper
NM_001358410.2
p.G37R
c.109G>A
1 paper
NM_001358410.2
p.G37R
c.109G>C
1 paper
NM_001358410.2
p.H50D
c.148C>G
1 paper
NM_001358410.2
p.L62L
c.186C>A
1 paper
NM_001358410.2
p.Y65H
c.193T>C
1 paper
NM_001358410.2
p.P70S
c.208C>T
1 paper
NM_001358410.2
p.S78delFs
c.233delC
1 paper
NM_001358410.2
p.P88S
c.262C>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."