Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.A23P

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.A23P
c.67G>C
Surrounding Variants
1 paper
NM_000407.5
p.C26S
c.77G>C
3 papers
NM_000407.5
p.P27S
c.79C>T
3 papers
NM_000407.5
p.P27L
c.80C>T
1 paper
NM_000407.5
p.P18fs
c.52_53fs
3 papers
NM_000407.5
p.P18fs
c.52_53fs
5 papers
NM_000407.5
p.P29L
c.86C>T
2 papers
NM_000407.5
p.P18_P22delFs
c.53_65del13
8 papers
NM_000407.5
p.L16P
c.47T>C
1 paper
NM_000407.5
p.L16L
c.46C>T
4 papers
NM_000407.5
p.C30Y
c.89G>A
1 paper
NM_000407.5
p.S31C
c.91A>T
1 paper
NM_000407.5
p.S31insFs
c.93dupC
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