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.L169P

c.506T>C

Surrounding Variants

1 paper

NM_004488.2

p.N168ins0

c.502_504dupAAT

1 paper

NM_004488.2

p.L165F

c.493C>T

1 paper

NM_004488.2

p.L174M

c.520T>A

1 paper

NM_004488.2

p.P162R

c.485C>G

1 paper

NM_004488.2

p.Q157*

c.469C>T

1 paper

NM_004488.2

p.T183insFs

c.547_548insG

1 paper

NM_004488.2

p.L153P

c.458T>C

1 paper

NM_004488.2

p.A152V

c.455C>T

1 paper

NM_004488.2

p.E150G

c.449A>G

1 paper

NM_004488.2

p.E150A

c.449A>C

1 paper

NM_004488.2

p.E150K

c.448G>A

1 paper

NM_004488.2

p.Q149K

c.445C>A