Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.A123_L124insA

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.A123_L124insA
c.367_371ins3
Surrounding Variants
4 papers
NM_000407.5
p.P121S
c.361C>T
1 paper
NM_000407.5
p.L129P
c.386T>C
1 paper
NM_000407.5
p.P130insFs
c.388_389insGA
3 papers
NM_000407.5
p.P130L
c.389C>T
3 papers
NM_000407.5
p.Y131S
c.392A>C
1 paper
NM_000407.5
p.Y131C
c.392A>G
1 paper
NM_000407.5
p.L132fs
c.394_395fs
3 papers
NM_000407.5
p.L132Q
c.395T>A
1 paper
NM_000407.5
p.L132P
c.395T>C
7 papers
NM_000407.5
p.Y113C
c.338A>G
5 papers
NM_000407.5
p.Y113F
c.338A>T
5 papers
NM_000407.5
p.A133P
c.397G>C
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