Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.W91*

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.W91*
c.272G>A
Surrounding Variants
1 paper
NM_000407.5
p.W91*
c.273G>A
1 paper
NM_000407.5
p.R92delFs
c.275delG
5 papers
NM_000407.5
p.P90R
c.269C>G
4 papers
NM_000407.5
p.P90S
c.268C>T
4 papers
NM_000407.5
p.N89T
c.266A>C
1 paper
NM_000407.5
p.N89S
c.266A>G
5 papers
NM_000407.5
p.N89D
c.265A>G
1 paper
NM_000407.5
p.N89insFs
c.266dupA
1 paper
NM_000407.5
p.D94_C95insG
c.280_284ins3
7 papers
NM_000407.5
p.D94G
c.281A>G
2 papers
NM_000407.5
p.C95W
c.285C>G
1 paper
NM_000407.5
p.H85Q
c.255C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."