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.L7P

c.20T>C

Surrounding Variants

1 paper

NM_004488.2

p.C8S

c.22T>A

1 paper

NM_004488.2

p.C8S

c.23G>C

1 paper

NM_004488.2

p.T5N

c.14C>A

1 paper

NM_004488.2

p.R3M

c.8G>T

1 paper

NM_004488.2

p.L11L

c.33C>T

1 paper

NM_004488.2

p.L2P

c.5T>C

1 paper

NM_004488.2

p.L2L

c.4C>T

1 paper

NM_004488.2

p.L13F

c.37C>T

1 paper

NM_004488.2

p.P18R

c.53C>G

1 paper

NM_004488.2

p.F19F

c.57C>T

1 paper

NM_004488.2

p.C25S

c.73T>A

1 paper

NM_004488.2

p.C25S

c.74G>C