Varaico: Literature-Extracted Genetic Variants

GP1BA

270 papers

RefSeq Summary

Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for...

Pfam Domains

LRRNTaa 19–46UCSCLeucine rich repeat N-terminal domain

LRR_8aa 116–176UCSCLeucine rich repeat

LRR_8aa 164–222UCSCLeucine rich repeat

Gene Aliases

HGNC Name

glycoprotein Ib platelet subunit alpha

HGNC Previous Symbol

GP1B

Papers

RefSeq ID

Protein change

DNA change

1–12 of 413 variants

21 papers

NM_000173.7

p.A172V

c.515C>T

17 papers

NM_000173.7

p.T161M

c.482C>T

12 papers

NM_000173.7

p.L73F

c.217C>T

12 papers

NM_000173.7

p.C225S

c.673T>A

10 papers

NM_000173.7

p.N57H

c.169A>C

10 papers

NM_000173.7

p.C225S

c.674G>C

10 papers

NM_000173.7

p.M255V

c.763A>G

9 papers

NM_000173.7

p.Y70D

c.208T>G

8 papers

NM_000173.7

p.G249V

c.746G>T

7 papers

NM_000173.7

p.L145P

c.434T>C

7 papers

NM_000173.7

p.W246L

c.737G>T

6 papers

NM_000173.7

p.P2L

c.5C>T