Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.C135Y

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
4 papers
NM_000174.5
p.C135Y
c.404G>A
Surrounding Variants
1 paper
NM_000174.5
p.G136R
c.406G>C
1 paper
NM_000174.5
p.G136A
c.407G>C
1 paper
NM_000174.5
p.S134I
c.401G>T
1 paper
NM_000174.5
p.G133R
c.397G>C
1 paper
NM_000174.5
p.L139P
c.416T>C
1 paper
NM_000174.5
p.Q131_L132insA
c.391_395ins3
1 paper
NM_000174.5
p.T128T
c.384A>G
1 paper
NM_000174.5
p.T128I
c.383C>T
2 papers
NM_000174.5
p.W143*
c.428G>A
3 papers
NM_000174.5
p.W143*
c.429G>A
1 paper
NM_000174.5
p.P146_A158insFs
c.437_474dup38
1 paper
NM_000174.5
p.G125R
c.373G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."