Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.T35fs

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.T35fs
c.103_104fs
Surrounding Variants
1 paper
NM_000407.5
p.T35fs
c.103_104fs
1 paper
NM_000407.5
p.T35S
c.103A>T
1 paper
NM_000407.5
p.T35M
c.104C>T
1 paper
NM_000407.5
p.T35T
c.105G>A
1 paper
NM_000407.5
p.L36insFs
c.106dupC
1 paper
NM_000407.5
p.L36insFs
c.106_107insG
1 paper
NM_000407.5
p.A33_R41del0
c.99_122del24
4 papers
NM_000407.5
p.C32*
c.96C>A
1 paper
NM_000407.5
p.C32R
c.94T>C
1 paper
NM_000407.5
p.C32insFs
c.94_95insG
1 paper
NM_000407.5
p.S31insFs
c.93dupC
1 paper
NM_000407.5
p.S31C
c.91A>T
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