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.L100delFs

c.298delG

Surrounding Variants

1 paper

NM_004488.2

p.V89D

c.266T>A

1 paper

NM_004488.2

p.L123P

c.368T>C

1 paper

NM_004488.2

p.L76R

c.227T>G

1 paper

NM_004488.2

p.A133P

c.397G>C

1 paper

NM_004488.2

p.R135_I137Fs

c.403_409delinsCCACTTFs

1 paper

NM_004488.2

p.I137T

c.410T>C

2 papers

NM_004488.2

p.G63D

c.188G>A

1 paper

NM_004488.2

p.G63S

c.187G>A

1 paper

NM_004488.2

p.D138N

c.412G>A

1 paper

NM_004488.2

p.R62P

c.185G>C

1 paper

NM_004488.2

p.G59A

c.176G>C

2 papers

NM_004488.2

p.G59R

c.175G>C