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

1–12 of 113 variants

3 papers

NM_004488.2

p.L57F

c.169C>T

2 papers

NM_004488.2

p.G59R

c.175G>C

2 papers

NM_004488.2

p.G59R

c.175G>A

2 papers

NM_004488.2

p.G63D

c.188G>A

2 papers

NM_004488.2

p.I230N

c.689T>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

2 papers

NM_004488.2

p.R437W

c.1309C>T

1 paper

NM_004488.2

p.L2L

c.4C>T

1 paper

NM_004488.2

p.L2P

c.5T>C

1 paper

NM_004488.2

p.R3M

c.8G>T