Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T185I

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
2 papers
NM_000166.6
p.T185I
c.554C>T
Surrounding Variants
1 paper
NM_000166.6
p.T185fs
c.553_554fs
36 papers
NM_000166.6
p.E186K
c.556G>A
6 papers
NM_000166.6
p.E186*
c.556G>T
1 paper
NM_000166.6
p.E186G
c.557A>G
1 paper
NM_000166.6
p.E186V
c.557A>T
1 paper
NM_000166.6
p.P184R
c.551C>G
1 paper
NM_000166.6
p.P184L
c.551C>T
1 paper
NM_000166.6
p.K187E
c.559A>G
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.R183L
c.548G>T
1 paper
NM_000166.6
p.P184delFs
c.552delC
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