Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T55I

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
62 papers
NM_000166.6
p.T55I
c.164C>T
Surrounding Variants
7 papers
NM_000166.6
p.T55R
c.164C>G
3 papers
NM_000166.6
p.T55A
c.163A>G
5 papers
NM_000166.6
p.N54K
c.162C>A
4 papers
NM_000166.6
p.N54K
c.162C>G
1 paper
NM_000166.6
p.L56V
c.166C>G
14 papers
NM_000166.6
p.L56F
c.166C>T
13 papers
NM_000166.6
p.L56delFs
c.167delT
3 papers
NM_000166.6
p.N54S
c.161A>G
1 paper
NM_000166.6
p.N54I
c.161A>T
5 papers
NM_000166.6
p.N54H
c.160A>C
1 paper
NM_000166.6
p.Q57*
c.169C>T
1 paper
NM_000166.6
p.C53Y
c.158G>A
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