Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.L76delFs

GJB6

1,023 papers

RefSeq Summary

Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each conne...

Pfam Domains

Connexinaa 2–215UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 6

HGNC Previous Symbols

DFNA3; ED2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001110219.3
p.L76delFs
c.228delC
Surrounding Variants
23 papers
NM_001110219.3
p.W77R
c.229T>C
18 papers
NM_001110219.3
p.W77R
c.229T>A
3 papers
NM_001110219.3
p.W77fs
c.229_230fs
1 paper
NM_001110219.3
p.W77S
c.230G>C
18 papers
NM_001110219.3
p.W77*
c.230G>A
17 papers
NM_001110219.3
p.W77*
c.231G>A
1 paper
NM_001110219.3
p.A78T
c.232G>A
1 paper
NM_001110219.3
p.A78V
c.233C>T
1 paper
NM_001110219.3
p.A78insFs
c.232dupG
19 papers
NM_001110219.3
p.R75Q
c.224G>A
35 papers
NM_001110219.3
p.R75W
c.223C>T
2 papers
NM_001110219.3
p.L79F
c.235C>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."