Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V91G

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.V91G
c.272T>G
Surrounding Variants
15 papers
NM_000166.6
p.V91M
c.271G>A
1 paper
NM_000166.6
p.V91L
c.271G>C
1 paper
NM_000166.6
p.V91L
c.271G>T
1 paper
NM_000166.6
p.L90_V91insFs
c.270_271insT
1 paper
NM_000166.6
p.A92T
c.274G>A
10 papers
NM_000166.6
p.L90H
c.269T>A
10 papers
NM_000166.6
p.L90P
c.269T>C
7 papers
NM_000166.6
p.L90V
c.268C>G
1 paper
NM_000166.6
p.L90F
c.268C>T
1 paper
NM_000166.6
p.L90delFs
c.269delT
1 paper
NM_000166.6
p.M93fs
c.277_278fs
15 papers
NM_000166.6
p.M93V
c.277A>G
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