Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.L165_L168del4

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.L165_L168del4
c.493_503del12
Surrounding Variants
1 paper
NM_000174.5
p.L164insFs
c.491dupT
2 papers
NM_000174.5
p.A163D
c.488C>A
1 paper
NM_000174.5
p.L162Q
c.485T>A
1 paper
NM_000174.5
p.L168ins0
c.502_504dupCTG
1 paper
NM_000174.5
p.G161D
c.482G>A
1 paper
NM_000174.5
p.G161S
c.481G>A
1 paper
NM_000174.5
p.L169P
c.506T>C
1 paper
NM_000174.5
p.A159fs
c.475_476fs
1 paper
NM_000174.5
p.A171D
c.512C>A
1 paper
NM_000174.5
p.A158insFs
c.474dupC
1 paper
NM_000174.5
p.V157A
c.470T>C
3 papers
NM_000174.5
p.T172I
c.515C>T
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