Varaico: Literature-Extracted Genetic Variants

Gene:GJD4

GJD4

50 papers

RefSeq Summary

Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking...

Pfam Domains

Connexinaa 3–221UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein delta 4

HGNC Alias Symbols

CX40.1; FLJ90023

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
3 papers
NM_153368.3
p.L153R
c.458T>G
2 papers
NM_153368.3
p.L87F
c.259C>T
1 paper
NM_153368.3
p.G3G
c.9C>G
1 paper
NM_153368.3
p.V18L
c.52G>C
1 paper
NM_153368.3
p.V27I
c.79G>A
1 paper
NM_153368.3
p.R33W
c.97C>T
1 paper
NM_153368.3
p.A40E
c.119C>A
1 paper
NM_153368.3
p.A40G
c.119C>G
1 paper
NM_153368.3
p.A40V
c.119C>T
1 paper
NM_153368.3
p.V44I
c.130G>A
1 paper
NM_153368.3
p.D47A
c.140A>C
1 paper
NM_153368.3
p.C54C
c.162C>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."