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.E294K

c.880G>A

Surrounding Variants

1 paper

NM_004488.2

p.W296*

c.888G>A

2 papers

NM_004488.2

p.M289I

c.867G>T

2 papers

NM_004488.2

p.M289I

c.867G>C

2 papers

NM_004488.2

p.M289I

c.867G>A

1 paper

NM_004488.2

p.P282S

c.844C>T

1 paper

NM_004488.2

p.E280K

c.838G>A

1 paper

NM_004488.2

p.L268M

c.802C>A

1 paper

NM_004488.2

p.P325S

c.973C>T

1 paper

NM_004488.2

p.F262F

c.786T>C

1 paper

NM_004488.2

p.L257H

c.770T>A

1 paper

NM_004488.2

p.P331S

c.991C>T

1 paper

NM_004488.2

p.P331P

c.993G>A