Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.G159D

GJB1

948 papers

RefSeq Summary

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions...

Pfam Domains

Connexinaa 2–214UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 1

HGNC Previous Symbols

CMTX1; CMTX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000166.6
p.G159D
c.476G>A
Surrounding Variants
1 paper
NM_000166.6
p.Y160del1
c.478_479delTAT
2 papers
NM_000166.6
p.G159S
c.475G>A
1 paper
NM_000166.6
p.Y160C
c.479A>G
1 paper
NM_000166.6
p.G159_A161del0
c.476_481del6
1 paper
NM_000166.6
p.P158T
c.472C>A
7 papers
NM_000166.6
p.P158A
c.472C>G
1 paper
NM_000166.6
p.P158S
c.472C>T
1 paper
NM_000166.6
p.A161P
c.481G>C
3 papers
NM_000166.6
p.Y157C
c.470A>G
1 paper
NM_000166.6
p.A161D
c.482C>A
1 paper
NM_000166.6
p.M162insFs
c.484dupA
5 papers
NM_000166.6
p.Y157H
c.469T>C
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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."