Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.C24W

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.C24W
c.72T>G
Surrounding Variants
16 papers
NM_000174.5
p.C24R
c.70T>C
1 paper
NM_000174.5
p.R27R
c.81C>T
1 paper
NM_000174.5
p.P21H
c.62C>A
1 paper
NM_000174.5
p.A28G
c.83C>G
1 paper
NM_000174.5
p.C20G
c.58T>G
1 paper
NM_000174.5
p.K18_S22delFs
c.53_65del13
1 paper
NM_000174.5
p.A16V
c.47C>T
1 paper
NM_000174.5
p.G33Fs
c.97_98delinsCFs
1 paper
NM_000174.5
p.G33E
c.98G>A
1 paper
NM_000174.5
p.A14V
c.41C>T
1 paper
NM_000174.5
p.W35*
c.104G>A
1 paper
NM_000174.5
p.W35*
c.105G>A
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