Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.Q154H

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
5 papers
NM_000407.5
p.Q154H
c.462G>C
Surrounding Variants
5 papers
NM_000407.5
p.Q154H
c.462G>T
1 paper
NM_000407.5
p.L155P
c.464T>C
2 papers
NM_000407.5
p.A156insFs
c.466dupG
1 paper
NM_000407.5
p.A156fs
c.466_467fs
3 papers
NM_000407.5
p.A156fs
c.466_467fs
13 papers
NM_000407.5
p.A156V
c.467C>T
1 paper
NM_000407.5
p.L157fs
c.469_470fs
1 paper
NM_000407.5
p.A152V
c.455C>T
2 papers
NM_000407.5
p.L157fs
c.469_470fs
1 paper
NM_000407.5
p.L157Q
c.470T>A
5 papers
NM_000407.5
p.L157P
c.470T>C
1 paper
NM_000407.5
p.L158delFs
c.472_473delCT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."