Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.Q76H

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.Q76H
c.228G>T
Surrounding Variants
2 papers
NM_000174.5
p.Q76H
c.228G>C
1 paper
NM_000174.5
p.Q76R
c.227A>G
2 papers
NM_000174.5
p.L77Q
c.230T>A
1 paper
NM_000174.5
p.T79_V82del0
c.236_244del9
1 paper
NM_000174.5
p.T79I
c.236C>T
1 paper
NM_000174.5
p.H73R
c.218A>G
1 paper
NM_000174.5
p.H73Y
c.217C>T
1 paper
NM_000174.5
p.L80P
c.239T>C
13 papers
NM_000174.5
p.F71S
c.212T>C
5 papers
NM_000174.5
p.F71C
c.212T>G
1 paper
NM_000174.5
p.A70A
c.210C>G
1 paper
NM_000174.5
p.T83M
c.248C>T
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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."