Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.H85Q

GP1BB

111 papers

RefSeq Summary

Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes t...

Pfam Domains

GP1BB_Caa 143–194UCSCPlatelet glycoprotein Ib beta chain C-terminal domain

Gene Aliases

HGNC Name

glycoprotein Ib platelet subunit beta

HGNC Alias Symbols

CD42c; GPIbbeta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000407.5
p.H85Q
c.255C>A
Surrounding Variants
1 paper
NM_000407.5
p.T83I
c.248C>T
1 paper
NM_000407.5
p.N89insFs
c.266dupA
5 papers
NM_000407.5
p.N89D
c.265A>G
4 papers
NM_000407.5
p.N89T
c.266A>C
1 paper
NM_000407.5
p.N89S
c.266A>G
4 papers
NM_000407.5
p.R82C
c.244C>T
4 papers
NM_000407.5
p.P90S
c.268C>T
2 papers
NM_000407.5
p.L81R
c.242T>G
5 papers
NM_000407.5
p.P90R
c.269C>G
1 paper
NM_000407.5
p.W91*
c.272G>A
4 papers
NM_000407.5
p.A80P
c.238G>C
1 paper
NM_000407.5
p.W91*
c.273G>A
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