Varaico: Literature-Extracted Genetic Variants

Gene:GP6
Variant:p.S321*

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.S321*
c.962C>A
Surrounding Variants
1 paper
NM_016363.5
p.G323_G324ins10
c.967_971ins30
1 paper
NM_016363.5
p.T318A
c.952A>G
1 paper
NM_016363.5
p.L317Q
c.950T>A
5 papers
NM_016363.5
p.P314A
c.940C>G
1 paper
NM_016363.5
p.P314insFs
c.940_941insTG
2 papers
NM_016363.5
p.L312P
c.935T>C
1 paper
NM_016363.5
p.P311P
c.933C>T
1 paper
NM_001083899.2
p.T331_G332delFs
c.992_995del4
1 paper
NM_016363.5
p.P310_P311insC
c.928_932ins3
1 paper
NM_016363.5
p.L309R
c.926T>G
1 paper
NM_016363.5
p.H333R
c.998A>G
1 paper
NM_016363.5
p.R335C
c.1003C>T
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