Varaico: Literature-Extracted Genetic Variants

Gene:GP6
Variant:p.Q49R

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.Q49R
c.146A>G
Surrounding Variants
1 paper
NM_016363.5
p.Q49*
c.145C>T
1 paper
NM_016363.5
p.C48_Q49delins
c.144_145delinsCA
1 paper
NM_016363.5
p.C48F
c.143G>T
1 paper
NM_016363.5
p.G50G
c.150A>T
2 papers
NM_016363.5
p.R47Q
c.140G>A
1 paper
NM_016363.5
p.R47W
c.139C>T
1 paper
NM_016363.5
p.P52S
c.154C>T
1 paper
NM_016363.5
p.L46H
c.137T>A
1 paper
NM_016363.5
p.P52L
c.155C>T
1 paper
NM_016363.5
p.V44V
c.132G>C
1 paper
NM_016363.5
p.V54M
c.160G>A
1 paper
NM_016363.5
p.V44A
c.131T>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."