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.S488S

c.1464G>A

Surrounding Variants

1 paper

NM_004488.2

p.E489del1

c.1465_1466delTTC

1 paper

NM_004488.2

p.P475S

c.1423C>T

1 paper

NM_004488.2

p.P473R

c.1418C>G

1 paper

NM_004488.2

p.C472F

c.1415G>T

1 paper

NM_004488.2

p.C472Y

c.1415G>A

1 paper

NM_004488.2

p.G468fs

c.1402_1403fs

1 paper

NM_004488.2

p.W463*

c.1389G>A

1 paper

NM_004488.2

p.W463*

c.1388G>A

1 paper

NM_004488.2

p.A458S

c.1372G>T

1 paper

NM_004488.2

p.G455A

c.1364G>C

1 paper

NM_004488.2

p.C451C

c.1353C>T

1 paper

NM_004488.2

p.G444S

c.1330G>A