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

10 papers

NM_000173.7

p.C225S

c.674G>C

Surrounding Variants

2 papers

NM_000173.7

p.C225_N226Fs

c.675_676delinsGFs

12 papers

NM_000173.7

p.C225S

c.673T>A

1 paper

NM_000173.7

p.W223*

c.669G>A

1 paper

NM_000173.7

p.W223*

c.668G>A

6 papers

NM_000173.7

p.W223G

c.667T>G

2 papers

NM_000173.7

p.N221K

c.663C>A

2 papers

NM_000173.7

p.N221K

c.663C>G

1 paper

NM_000173.7

p.H219L

c.656A>T

1 paper

NM_000173.7

p.H219Y

c.655C>T

1 paper

NM_000173.7

p.R233H

c.698G>A

2 papers

NM_000173.7

p.R234C

c.700C>T

1 paper

NM_000173.7

p.L236_Y244del9

c.706_731del27