Varaico: Literature-Extracted Genetic Variants

Gene:GJD3
Variant:p.Q49*

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.Q49*
c.145C>T
Surrounding Variants
1 paper
NM_152219.4
p.V53E
c.158T>A
2 papers
NM_152219.4
p.P59T
c.175C>A
1 paper
NM_152219.4
p.G60S
c.178G>A
1 paper
NM_152219.4
p.L37P
c.110T>C
1 paper
NM_152219.4
p.W25S
c.74G>C
1 paper
NM_152219.4
p.H74P
c.221A>C
1 paper
NM_152219.4
p.L79P
c.236T>C
1 paper
NM_152219.4
p.I82M
c.246C>G
1 paper
NM_152219.4
p.D12V
c.35A>T
1 paper
NM_152219.4
p.L10P
c.29T>C
1 paper
NM_152219.4
p.P88S
c.262C>T
1 paper
NM_152219.4
p.F6I
c.16T>A
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