Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.G106fs

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
3 papers
NM_000407.5
p.G106fs
c.316_317fs
Surrounding Variants
1 paper
NM_000407.5
p.G106S
c.316G>A
1 paper
NM_000407.5
p.G106fs
c.316_317fs
1 paper
NM_000407.5
p.G106_R107insG
c.316_320ins3
2 papers
NM_000407.5
p.A105delFs
c.315delC
2 papers
NM_000407.5
p.R107P
c.320G>C
1 paper
NM_000407.5
p.L104insFs
c.311_312ins4
1 paper
NM_000407.5
p.L104fs
c.310_311fs
2 papers
NM_000407.5
p.E109insFs
c.327dupG
3 papers
NM_000407.5
p.R110fs
c.328_329fs
1 paper
NM_000407.5
p.R110C
c.328C>T
1 paper
NM_000407.5
p.R110fs
c.328_329fs
2 papers
NM_000407.5
p.A102_A105del0
c.305_313del9
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