Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R32K

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
6 papers
NM_000166.6
p.R32K
c.95G>A
Surrounding Variants
4 papers
NM_000166.6
p.R32G
c.94A>G
2 papers
NM_000166.6
p.R32R
c.96A>G
5 papers
NM_000166.6
p.I33N
c.98T>A
2 papers
NM_000166.6
p.F31S
c.92T>C
1 paper
NM_000166.6
p.I33T
c.98T>C
1 paper
NM_000166.6
p.F31C
c.92T>G
1 paper
NM_000166.6
p.I33_M34ins1
c.99_100insCAT
2 papers
NM_000166.6
p.I33M
c.99C>G
1 paper
NM_000166.6
p.F31I
c.91T>A
9 papers
NM_000166.6
p.M34V
c.100A>G
2 papers
NM_000166.6
p.I30M
c.90C>G
13 papers
NM_000166.6
p.I30N
c.89T>A
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