Varaico: Literature-Extracted Genetic Variants

Gene:GP6
Variant:p.S254*

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.S254*
c.761C>G
Surrounding Variants
1 paper
NM_016363.5
p.S254*
c.761C>A
1 paper
NM_016363.5
p.S254P
c.760T>C
1 paper
NM_016363.5
p.E253delFs
c.757delC
1 paper
NM_016363.5
p.K252M
c.755A>T
1 paper
NM_016363.5
p.K252R
c.755A>G
1 paper
NM_016363.5
p.P251L
c.752C>T
1 paper
NM_016363.5
p.P257P
c.771A>C
1 paper
NM_016363.5
p.S250R
c.750T>G
1 paper
NM_016363.5
p.S250R
c.750T>A
1 paper
NM_016363.5
p.S250R
c.748A>C
4 papers
NM_016363.5
p.A249T
c.745G>A
1 paper
NM_016363.5
p.R245ins3
c.733_734ins9
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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."