Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.M162L

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
3 papers
NM_000166.6
p.M162L
c.484A>C
Surrounding Variants
3 papers
NM_000166.6
p.M162L
c.484A>T
1 paper
NM_000166.6
p.M162insFs
c.484dupA
1 paper
NM_000166.6
p.M162T
c.485T>C
1 paper
NM_000166.6
p.A161D
c.482C>A
2 papers
NM_000166.6
p.V163M
c.487G>A
1 paper
NM_000166.6
p.A161P
c.481G>C
1 paper
NM_000166.6
p.Y160C
c.479A>G
1 paper
NM_000166.6
p.R164G
c.490C>G
48 papers
NM_000166.6
p.R164W
c.490C>T
1 paper
NM_000166.6
p.Y160del1
c.478_479delTAT
64 papers
NM_000166.6
p.R164Q
c.491G>A
2 papers
NM_000166.6
p.R164L
c.491G>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."