Varaico: Literature-Extracted Genetic Variants

Gene:GP6

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
1–12 of 237 variants
15 papers
NM_016363.5
p.N269N
c.807C>T
9 papers
NM_016363.5
p.P219S
c.655C>T
7 papers
NM_016363.5
p.R58C
c.172C>T
5 papers
NM_016363.5
p.S175N
c.524G>A
5 papers
NM_016363.5
p.P314A
c.940C>G
4 papers
NM_016363.5
p.E237K
c.709G>A
4 papers
NM_016363.5
p.E237insFs
c.711dupA
4 papers
NM_016363.5
p.A249T
c.745G>A
4 papers
NM_016363.5
p.R272L
c.815G>T
2 papers
NM_016363.5
p.M1I
c.3G>A
2 papers
NM_016363.5
p.V18L
c.52G>T
2 papers
NM_016363.5
p.L33P
c.98T>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."