Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.A69T

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.A69T
c.205G>A
Surrounding Variants
5 papers
NM_000407.5
p.T68M
c.203C>T
1 paper
NM_000407.5
p.D76_L78del0
c.226_234del9
1 paper
NM_000407.5
p.P79_R82ins1
c.236_244dup9
4 papers
NM_000407.5
p.D76G
c.227A>G
2 papers
NM_000407.5
p.P79_R82del0
c.236_244del9
5 papers
NM_000407.5
p.L60P
c.179T>C
3 papers
NM_000407.5
p.L78R
c.233T>G
1 paper
NM_000407.5
p.E59*
c.175G>T
1 paper
NM_000407.5
p.T58N
c.173C>A
4 papers
NM_000407.5
p.A80P
c.238G>C
1 paper
NM_000407.5
p.T57P
c.169A>C
2 papers
NM_000407.5
p.L81R
c.242T>G
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