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.E298D

c.894G>C

Surrounding Variants

2 papers

NM_000173.7

p.E298D

c.894G>T

1 paper

NM_000173.7

p.T300fs

c.898_899fs

1 paper

NM_000173.7

p.E301K

c.901G>A

1 paper

NM_000173.7

p.Y294*

c.882C>A

2 papers

NM_000173.7

p.Y294*

c.882C>G

1 paper

NM_000173.7

p.Y294insFs

c.881_882insC

1 paper

NM_000173.7

p.D303N

c.907G>A

2 papers

NM_000173.7

p.V305_K313del9

c.913_938del27

1 paper

NM_000173.7

p.A307T

c.919G>A

1 paper

NM_000173.7

p.A307V

c.920C>T

3 papers

NM_000173.7

p.V311delFs

c.932_933delTG

1 paper

NM_000173.7

p.V311fs

c.931_932fs