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

6 papers

NM_000173.7

p.C20G

c.58T>G

Surrounding Variants

1 paper

NM_000173.7

p.P18R

c.53C>G

2 papers

NM_000173.7

p.P18fs

c.52_53fs

1 paper

NM_000173.7

p.P18_V22delFs

c.53_65del13

1 paper

NM_000173.7

p.S23_V31del9

c.67_92del27

1 paper

NM_000173.7

p.H17N

c.49C>A

1 paper

NM_000173.7

p.S23P

c.67T>C

1 paper

NM_000173.7

p.K24K

c.72A>G

1 paper

NM_000173.7

p.H28del1

c.82_83delCAC

1 paper

NM_000173.7

p.P13_H15del3

c.37_44del9

1 paper

NM_000173.7

p.L10V

c.28C>G

1 paper

NM_000173.7

p.L10delFs

c.28delC

1 paper

NM_000173.7

p.N32_D34delFs

c.95_101del7