Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V166G

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.V166G
c.497T>G
Surrounding Variants
4 papers
NM_000166.6
p.K167E
c.499A>G
1 paper
NM_000166.6
p.L165Q
c.494T>A
2 papers
NM_000166.6
p.L165P
c.494T>C
3 papers
NM_000166.6
p.C168R
c.502T>C
64 papers
NM_000166.6
p.R164Q
c.491G>A
17 papers
NM_000166.6
p.C168Y
c.503G>A
2 papers
NM_000166.6
p.R164L
c.491G>T
1 paper
NM_000166.6
p.C168_D169insFs
c.504_505ins4
1 paper
NM_000166.6
p.R164G
c.490C>G
48 papers
NM_000166.6
p.R164W
c.490C>T
2 papers
NM_000166.6
p.D169N
c.505G>A
2 papers
NM_000166.6
p.V163M
c.487G>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."