Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.L46L

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.L46L
c.138G>A
Surrounding Variants
1 paper
NM_000174.5
p.P47A
c.139C>G
3 papers
NM_000174.5
p.P47S
c.139C>T
1 paper
NM_000174.5
p.P47R
c.140C>G
1 paper
NM_000174.5
p.A45D
c.134C>A
1 paper
NM_000174.5
p.A45V
c.134C>T
2 papers
NM_000174.5
p.A48D
c.143C>A
1 paper
NM_000174.5
p.A45fs
c.133_134fs
3 papers
NM_000174.5
p.T44T
c.132G>A
1 paper
NM_000174.5
p.T44insFs
c.131_132insA
1 paper
NM_000174.5
p.L49R
c.146T>G
1 paper
NM_000174.5
p.P50S
c.148C>T
1 paper
NM_000174.5
p.P50Q
c.149C>A
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