Varaico: Literature-Extracted Genetic Variants

Gene:GJD3
Variant:p.K187T

GJD3

52 papers

RefSeq Summary

This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon c...

Pfam Domains

Connexinaa 3–214UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein delta 3

HGNC Alias Symbols

CX31.9; GJA11; Cx30.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152219.4
p.K187T
c.560A>C
Surrounding Variants
5 papers
NM_152219.4
p.H175Y
c.523C>T
1 paper
NM_152219.4
p.G159D
c.476G>A
1 paper
NM_152219.4
p.G153del1
c.457_459delGCC
2 papers
NM_152219.4
p.E147K
c.439G>A
1 paper
NM_152219.4
p.S139N
c.416G>A
1 paper
NM_152219.4
p.P241Q
c.722C>A
2 papers
NM_152219.4
p.P243_P244del1
c.729_731delGGC
1 paper
NM_152219.4
p.P244del1
c.730_731delTGG
2 papers
NM_152219.4
p.P248del1
c.742_743delCGG
6 papers
NM_152219.4
p.R253P
c.758G>C
1 paper
NM_152219.4
p.P88S
c.262C>T
1 paper
NM_152219.4
p.I82M
c.246C>G
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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."