Varaico: Literature-Extracted Genetic Variants

Gene:GJB1

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
1–12 of 777 variants
76 papers
NM_000166.6
p.R75W
c.223C>T
73 papers
NM_000166.6
p.R142W
c.424C>T
66 papers
NM_000166.6
p.S26L
c.77C>T
64 papers
NM_000166.6
p.R164Q
c.491G>A
62 papers
NM_000166.6
p.T55I
c.164C>T
59 papers
NM_000166.6
p.N205S
c.614A>G
51 papers
NM_000166.6
p.R15W
c.43C>T
48 papers
NM_000166.6
p.R15Q
c.44G>A
48 papers
NM_000166.6
p.R164W
c.490C>T
46 papers
NM_000166.6
p.M34T
c.101T>C
45 papers
NM_000166.6
p.V95M
c.283G>A
45 papers
NM_000166.6
p.V139M
c.415G>A
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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."