Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.Y95C

GP9

147 papers

RefSeq Summary

This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex th...

Pfam Domains

LRRNTaa 19–50UCSCLeucine rich repeat N-terminal domain
LRR_8aa 50–86UCSCLeucine rich repeat

Gene Aliases

HGNC Name

glycoprotein IX platelet

HGNC Alias Symbols

CD42a; GPIX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000174.5
p.Y95C
c.284A>G
Surrounding Variants
3 papers
NM_000174.5
p.Y95*
c.285T>A
5 papers
NM_000174.5
p.Y95*
c.285T>G
2 papers
NM_000174.5
p.Y95D
c.283T>G
3 papers
NM_000174.5
p.R97C
c.289C>T
1 paper
NM_000174.5
p.R97H
c.290G>A
1 paper
NM_000174.5
p.R97P
c.290G>C
1 paper
NM_000174.5
p.S92G
c.274A>G
1 paper
NM_000174.5
p.S92delFs
c.275delG
1 paper
NM_000174.5
p.D90G
c.269A>G
1 paper
NM_000174.5
p.D90Y
c.268G>T
3 papers
NM_000174.5
p.C89Y
c.266G>A
2 papers
NM_000174.5
p.D102_P105del0
c.305_313del9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."