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.F29delins

c.87delinsC

Surrounding Variants

1 paper

NM_004488.2

p.V28V

c.84C>A

1 paper

NM_004488.2

p.A32V

c.95C>T

1 paper

NM_004488.2

p.A33V

c.98C>T

1 paper

NM_004488.2

p.Q34L

c.101A>T

1 paper

NM_004488.2

p.C25S

c.74G>C

1 paper

NM_004488.2

p.C25S

c.73T>A

1 paper

NM_004488.2

p.C35*

c.105C>A

1 paper

NM_004488.2

p.S36L

c.107C>T

1 paper

NM_004488.2

p.G37G

c.111G>A

1 paper

NM_004488.2

p.G38S

c.112G>A

1 paper

NM_004488.2

p.G38D

c.113G>A

1 paper

NM_004488.2

p.D39N

c.115G>A