Varaico: Literature-Extracted Genetic Variants

Gene:GP6
Variant:p.S115delins

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.S115delins
c.343_345delinsCAG
Surrounding Variants
1 paper
NM_016363.5
p.S115delins
c.343_345delinsTAG
1 paper
NM_016363.5
p.S115S
c.345G>A
1 paper
NM_016363.5
p.L116V
c.346C>G
1 paper
NM_016363.5
p.A118_Q119insT
c.352_356ins3
1 paper
NM_016363.5
p.S117ins0
c.349_351dupTCA
1 paper
NM_016363.5
p.F111I
c.331T>A
1 paper
NM_016363.5
p.P120P
c.360C>T
1 paper
NM_016363.5
p.G121fs
c.361_362fs
1 paper
NM_016363.5
p.P122A
c.364C>G
1 paper
NM_016363.5
p.P122L
c.365C>T
1 paper
NM_016363.5
p.V124delins
c.370_371delinsGT
1 paper
NM_016363.5
p.G127insFs
c.380_381insAG
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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."