Varaico: Literature-Extracted Genetic Variants

Gene:GP6
Variant:p.L95H

GP6

211 papers

RefSeq Summary

This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation ...

Pfam Domains

Ig_2aa 27–107UCSCImmunoglobulin domain
Ig_3aa 113–182UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

glycoprotein VI platelet

HGNC Alias Symbol

GPVI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016363.5
p.L95H
c.284T>A
Surrounding Variants
1 paper
NM_016363.5
p.S94N
c.281G>A
1 paper
NM_016363.5
p.S94R
c.280A>C
1 paper
NM_016363.5
p.N92I
c.275A>T
1 paper
NM_016363.5
p.Q91_N92delins
c.273_274delinsTG
1 paper
NM_016363.5
p.Y86_C88ins1
c.256_264dup9
1 paper
NM_016363.5
p.L103L
c.307C>T
2 papers
NM_016363.5
p.L103V
c.307C>G
1 paper
NM_016363.5
p.L103M
c.307C>A
1 paper
NM_016363.5
p.E104insFs
c.310_311insC
1 paper
NM_016363.5
p.E104G
c.311A>G
1 paper
NM_016363.5
p.Y86_R87insAA
c.256_260ins6
1 paper
NM_016363.5
p.L105F
c.313C>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."