Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L239F

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.L239F
c.715C>T
Surrounding Variants
6 papers
NM_000166.6
p.L239I
c.715C>A
17 papers
NM_000166.6
p.R238H
c.713G>A
1 paper
NM_000166.6
p.R238C
c.712C>T
1 paper
NM_000166.6
p.S240A
c.718T>G
1 paper
NM_000166.6
p.G236S
c.706G>A
26 papers
NM_000166.6
p.F235C
c.704T>G
1 paper
NM_000166.6
p.Y243F
c.728A>T
1 paper
NM_000166.6
p.G234C
c.700G>T
1 paper
NM_000166.6
p.K244R
c.731A>G
1 paper
NM_000166.6
p.S233L
c.698C>T
1 paper
NM_000166.6
p.S233A
c.697T>G
1 paper
NM_000166.6
p.S233fs
c.697_698fs
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