Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.H16P

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.H16P
c.47A>C
Surrounding Variants
1 paper
NM_000166.6
p.H16R
c.47A>G
1 paper
NM_000166.6
p.H16L
c.47A>T
1 paper
NM_000166.6
p.H16D
c.46C>G
1 paper
NM_000166.6
p.H16Q
c.48T>A
1 paper
NM_000166.6
p.S17Y
c.50C>A
2 papers
NM_000166.6
p.S17C
c.50C>G
48 papers
NM_000166.6
p.R15Q
c.44G>A
6 papers
NM_000166.6
p.R15L
c.44G>T
2 papers
NM_000166.6
p.R15delins
c.44_45delinsTT
1 paper
NM_000166.6
p.R15insFs
c.43_44insT
51 papers
NM_000166.6
p.R15W
c.43C>T
1 paper
NM_000166.6
p.T18A
c.52A>G
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