Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.S117N

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
1 paper
NM_000174.5
p.S117N
c.350G>A
Surrounding Variants
1 paper
NM_000174.5
p.A119V
c.356C>T
1 paper
NM_000174.5
p.A120T
c.358G>A
1 paper
NM_000174.5
p.A114V
c.341C>T
1 paper
NM_000174.5
p.H121Y
c.361C>T
2 papers
NM_000174.5
p.C113Y
c.338G>A
3 papers
NM_000174.5
p.P123L
c.368C>T
1 paper
NM_000174.5
p.L124M
c.370C>A
1 paper
NM_000174.5
p.Q110R
c.329A>G
4 papers
NM_000174.5
p.Q110*
c.328C>T
1 paper
NM_000174.5
p.L124L
c.372G>C
1 paper
NM_000174.5
p.G125R
c.373G>C
1 paper
NM_000174.5
p.L109R
c.326T>G
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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."