Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.L97R

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.L97R
c.290T>G
Surrounding Variants
4 papers
NM_000407.5
p.L97F
c.289C>T
2 papers
NM_000407.5
p.C95W
c.285C>G
4 papers
NM_000407.5
p.P99R
c.296C>G
7 papers
NM_000407.5
p.D94G
c.281A>G
1 paper
NM_000407.5
p.D94_C95insG
c.280_284ins3
2 papers
NM_000407.5
p.A102_A105del0
c.305_313del9
1 paper
NM_000407.5
p.R92delFs
c.275delG
1 paper
NM_000407.5
p.W91*
c.273G>A
1 paper
NM_000407.5
p.W91*
c.272G>A
1 paper
NM_000407.5
p.L104fs
c.310_311fs
5 papers
NM_000407.5
p.P90R
c.269C>G
1 paper
NM_000407.5
p.L104insFs
c.311_312ins4
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