Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L156delFs

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
1 paper
NM_000166.6
p.L156delFs
c.466delC
Surrounding Variants
1 paper
NM_000166.6
p.L156V
c.466C>G
1 paper
NM_000166.6
p.L156F
c.466C>T
13 papers
NM_000166.6
p.L156R
c.467T>G
6 papers
NM_000166.6
p.Y154*
c.462T>A
6 papers
NM_000166.6
p.Y154*
c.462T>G
5 papers
NM_000166.6
p.Y157H
c.469T>C
3 papers
NM_000166.6
p.Y157C
c.470A>G
2 papers
NM_000166.6
p.F153L
c.459T>A
2 papers
NM_000166.6
p.F153L
c.459T>G
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
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