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

7 papers

NM_000173.7

p.L145P

c.434T>C

Surrounding Variants

1 paper

NM_000173.7

p.E144V

c.431A>T

1 paper

NM_000173.7

p.Y146*

c.438C>G

1 paper

NM_000173.7

p.K148insFs

c.442dupA

1 paper

NM_000173.7

p.L142_Y146delFs

c.425_437del13

1 paper

NM_000173.7

p.E141G

c.422A>G

1 paper

NM_000173.7

p.N150delFs

c.448delA

1 paper

NM_000173.7

p.E141K

c.421G>A

5 papers

NM_000173.7

p.N150S

c.449A>G

5 papers

NM_000173.7

p.L139P

c.416T>C

1 paper

NM_000173.7

p.G138G

c.414T>A

1 paper

NM_000173.7

p.G138A

c.413G>C

1 paper

NM_000173.7

p.G138V

c.413G>T