Varaico: Literature-Extracted Genetic Variants

Gene:GP6
Variant:p.N269S

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.N269S
c.806A>G
Surrounding Variants
15 papers
NM_016363.5
p.N269N
c.807C>T
1 paper
NM_016363.5
p.R272W
c.814C>T
4 papers
NM_016363.5
p.R272L
c.815G>T
1 paper
NM_016363.5
p.T266A
c.796A>G
1 paper
NM_016363.5
p.L275R
c.824T>G
1 paper
NM_016363.5
p.L275delins
c.824_825delinsAC
2 papers
NM_016363.5
p.L275L
c.825C>T
1 paper
NM_001083899.2
p.R277Q
c.830G>A
1 paper
NM_016363.5
p.I282V
c.844A>G
1 paper
NM_016363.5
p.A284V
c.851C>T
1 paper
NM_016363.5
p.A284A
c.852G>T
1 paper
NM_016363.5
p.A284A
c.852G>C
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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."