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

Selected Variant

1 paper

NM_000173.7

p.V252V

c.756C>T

Surrounding Variants

1 paper

NM_000173.7

p.D251V

c.752A>T

5 papers

NM_000173.7

p.D251Y

c.751G>T

10 papers

NM_000173.7

p.M255V

c.763A>G

5 papers

NM_000173.7

p.M255I

c.765G>A

4 papers

NM_000173.7

p.M255I

c.765G>C

4 papers

NM_000173.7

p.M255I

c.765G>T

1 paper

NM_000173.7

p.G249D

c.746G>A

8 papers

NM_000173.7

p.G249V

c.746G>T

5 papers

NM_000173.7

p.G249S

c.745G>A

1 paper

NM_000173.7

p.N258N

c.774C>T

7 papers

NM_000173.7

p.W246L

c.737G>T

6 papers

NM_000173.7

p.V262G

c.785T>G