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.L213L

c.637C>T

Surrounding Variants

1 paper

NM_004488.2

p.N215S

c.644A>G

1 paper

NM_004488.2

p.S216N

c.647G>A

1 paper

NM_004488.2

p.F225_H226Fs

c.675_676delinsGFs

2 papers

NM_004488.2

p.I230N

c.689T>A

1 paper

NM_004488.2

p.R231C

c.691C>T

1 paper

NM_004488.2

p.K195*

c.583A>T

1 paper

NM_004488.2

p.Q193R

c.578A>G

1 paper

NM_004488.2

p.L241F

c.721C>T

1 paper

NM_004488.2

p.T183insFs

c.547_548insG

1 paper

NM_004488.2

p.L174M

c.520T>A

1 paper

NM_004488.2

p.L169P

c.506T>C

1 paper

NM_004488.2

p.N168ins0

c.502_504dupAAT