Varaico: Literature-Extracted Genetic Variants

Gene:GJC3
Variant:p.E269D

GJC3

72 papers

RefSeq Summary

This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutatio...

Pfam Domains

Connexinaa 2–215UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein gamma 3

HGNC Alias Symbols

CX30.2; CX29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_181538.3
p.E269D
c.807A>C
Surrounding Variants
4 papers
NM_181538.3
p.E269D
c.807A>T
2 papers
NM_181538.3
p.A267V
c.800C>T
4 papers
NM_181538.3
p.V261Splc
c.781+62G>A
1 paper
NM_181538.3
p.V261Splc
c.781+15C>T
1 paper
NM_181538.3
p.V261Splc
c.781+1G>A
1 paper
NM_181538.3
p.D246N
c.736G>A
1 paper
NM_181538.3
p.K193N
c.579G>T
1 paper
NM_181538.3
p.K193N
c.579G>C
2 papers
NM_181538.3
p.I190N
c.569T>A
1 paper
NM_181538.3
p.E187K
c.559G>A
1 paper
NM_181538.3
p.R184C
c.550C>T
1 paper
NM_181538.3
p.S183S
c.549C>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."