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.L86F

c.256C>T

Surrounding Variants

1 paper

NM_000173.7

p.T84delFs

c.252delC

2 papers

NM_000173.7

p.D89del1

c.265_266delGAT

6 papers

NM_000173.7

p.L83F

c.247C>T

3 papers

NM_000173.7

p.D89insFs

c.266dupA

1 paper

NM_000173.7

p.D89fs

c.265_266fs

1 paper

NM_000173.7

p.D89G

c.266A>G

1 paper

NM_000173.7

p.D89E

c.267T>A

1 paper

NM_000173.7

p.D89E

c.267T>G

1 paper

NM_000173.7

p.G90_L92del0

c.268_276del9

1 paper

NM_000173.7

p.C81*

c.243C>A

1 paper

NM_000173.7

p.G90A

c.269G>C

6 papers

NM_000173.7

p.C81R

c.241T>C