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.T154N

c.461C>A

Surrounding Variants

1 paper

NM_000173.7

p.T154_L155insC

c.460_464ins3

2 papers

NM_000173.7

p.L155V

c.463C>G

1 paper

NM_000173.7

p.L155P

c.464T>C

1 paper

NM_000173.7

p.P156insFs

c.466dupC

1 paper

NM_000173.7

p.P156S

c.466C>T

1 paper

NM_000173.7

p.P156P

c.468C>G

5 papers

NM_000173.7

p.N150S

c.449A>G

1 paper

NM_000173.7

p.N150delFs

c.448delA

1 paper

NM_000173.7

p.L160P

c.479T>C

1 paper

NM_000173.7

p.K148insFs

c.442dupA

17 papers

NM_000173.7

p.T161M

c.482C>T

1 paper

NM_000173.7

p.T161T

c.483G>A