Varaico: Literature-Extracted Genetic Variants

GP5

145 papers

RefSeq Summary

Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platel...

Pfam Domains

LRR_8aa 74–134UCSCLeucine rich repeat

LRR_8aa 194–254UCSCLeucine rich repeat

LRR_8aa 364–422UCSCLeucine rich repeat

LRRCTaa 448–473UCSCLeucine rich repeat C-terminal domain

Gene Aliases

HGNC Name

glycoprotein V platelet

HGNC Alias Symbol

CD42d

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004488.2

p.G339V

c.1016G>T

Surrounding Variants

1 paper

NM_004488.2

p.G337D

c.1010G>A

1 paper

NM_004488.2

p.Q336insFs

c.1007_1008ins8

1 paper

NM_004488.2

p.L344L

c.1032C>T

1 paper

NM_004488.2

p.P331P

c.993G>A

1 paper

NM_004488.2

p.P331S

c.991C>T

1 paper

NM_004488.2

p.L351L

c.1053G>A

1 paper

NM_004488.2

p.P325S

c.973C>T

1 paper

NM_004488.2

p.P355S

c.1063C>T

1 paper

NM_004488.2

p.Q367delFs

c.1100delT

1 paper

NM_004488.2

p.W296*

c.888G>A

1 paper

NM_004488.2

p.E294K

c.880G>A

2 papers

NM_004488.2

p.M289I

c.867G>T