Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.R42_L49delFs

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.R42_L49delFs
c.124_145del22
Surrounding Variants
1 paper
NM_000407.5
p.R42del1
c.124_125delCGC
9 papers
NM_000407.5
p.G40E
c.119G>A
1 paper
NM_000407.5
p.G40fs
c.118_119fs
1 paper
NM_000407.5
p.R41_R42insFs
c.123_124insA
1 paper
NM_000407.5
p.G40delFs
c.119delG
1 paper
NM_000407.5
p.R42fs
c.124_125fs
10 papers
NM_000407.5
p.R42C
c.124C>T
2 papers
NM_000407.5
p.R42fs
c.124_125fs
6 papers
NM_000407.5
p.G43W
c.127G>T
1 paper
NM_000407.5
p.G43A
c.128G>C
1 paper
NM_000407.5
p.G43G
c.129G>A
1 paper
NM_000407.5
p.L36insFs
c.106_107insG
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