Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.W148*

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
7 papers
NM_000407.5
p.W148*
c.443G>A
Surrounding Variants
6 papers
NM_000407.5
p.W148*
c.444G>A
3 papers
NM_000407.5
p.W148delFs
c.443delG
1 paper
NM_000407.5
p.W148insFs
c.442dupT
1 paper
NM_000407.5
p.G149R
c.445G>A
1 paper
NM_000407.5
p.G149R
c.445G>C
4 papers
NM_000407.5
p.C147S
c.440G>C
1 paper
NM_000407.5
p.A152_L157del0
c.454_471del18
4 papers
NM_000407.5
p.C147S
c.439T>A
1 paper
NM_000407.5
p.A150fs
c.448_449fs
5 papers
NM_000407.5
p.A150fs
c.448_449fs
1 paper
NM_000407.5
p.A150A
c.450G>A
1 paper
NM_000407.5
p.A152V
c.455C>T
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