Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R183L

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.R183L
c.548G>T
Surrounding Variants
32 papers
NM_000166.6
p.R183H
c.548G>A
1 paper
NM_000166.6
p.R183P
c.548G>C
1 paper
NM_000166.6
p.P184delFs
c.552delC
10 papers
NM_000166.6
p.R183S
c.547C>A
22 papers
NM_000166.6
p.R183C
c.547C>T
1 paper
NM_000166.6
p.R183delins
c.547_548delinsTT
2 papers
NM_000166.6
p.S182C
c.545C>G
1 paper
NM_000166.6
p.P184R
c.551C>G
1 paper
NM_000166.6
p.S182F
c.545C>T
1 paper
NM_000166.6
p.P184L
c.551C>T
6 papers
NM_000166.6
p.S182T
c.544T>A
1 paper
NM_000166.6
p.S182fs
c.544_545fs
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