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

2 papers

NM_000173.7

p.H102_L105del0

c.305_313del9

Surrounding Variants

1 paper

NM_000173.7

p.N103D

c.307A>G

1 paper

NM_000173.7

p.L105_Q106delFs

c.313_317del5

1 paper

NM_000173.7

p.L105delFs

c.315delG

1 paper

NM_000173.7

p.G96R

c.286G>A

1 paper

NM_000173.7

p.L108insFs

c.323_324ins10

1 paper

NM_000173.7

p.L108Q

c.323T>A

1 paper

NM_000173.7

p.L108P

c.323T>C

1 paper

NM_000173.7

p.L95_S101del7

c.283_302del21

1 paper

NM_000173.7

p.V94fs

c.280_281fs

2 papers

NM_000173.7

p.L110*

c.329T>A

3 papers

NM_000173.7

p.P93insFs

c.278dupC

2 papers

NM_000173.7

p.P93del1

c.277_278delCCA