Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB

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
1–12 of 163 variants
13 papers
NM_000407.5
p.A156V
c.467C>T
10 papers
NM_000407.5
p.R42C
c.124C>T
9 papers
NM_000407.5
p.G40E
c.119G>A
8 papers
NM_000407.5
p.L16P
c.47T>C
7 papers
NM_000407.5
p.W46*
c.137G>A
7 papers
NM_000407.5
p.W46*
c.138G>A
7 papers
NM_000407.5
p.D94G
c.281A>G
7 papers
NM_000407.5
p.Y113C
c.338A>G
7 papers
NM_000407.5
p.W148*
c.443G>A
6 papers
NM_000407.5
p.G43W
c.127G>T
6 papers
NM_000407.5
p.W148*
c.444G>A
5 papers
NM_000407.5
p.P29L
c.86C>T
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