Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.A52insFs

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.A52insFs
c.154dupG
Surrounding Variants
2 papers
NM_000407.5
p.F53_N65del13
c.157_194del39
1 paper
NM_000407.5
p.P50L
c.149C>T
1 paper
NM_000407.5
p.P54A
c.160C>G
5 papers
NM_000407.5
p.P54L
c.161C>T
4 papers
NM_000407.5
p.S48*
c.143C>A
1 paper
NM_000407.5
p.V55_D56delFs
c.165_168del4
1 paper
NM_000407.5
p.A47G
c.140C>G
7 papers
NM_000407.5
p.W46*
c.138G>A
1 paper
NM_000407.5
p.T57P
c.169A>C
7 papers
NM_000407.5
p.W46*
c.137G>A
1 paper
NM_000407.5
p.T58N
c.173C>A
1 paper
NM_000407.5
p.E59*
c.175G>T
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