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.K35*

c.103A>T

Surrounding Variants

2 papers

NM_000173.7

p.K35fs

c.103_104fs

3 papers

NM_000173.7

p.K35delFs

c.104delA

1 paper

NM_000173.7

p.K35K

c.105G>A

4 papers

NM_000173.7

p.R36G

c.106A>G

6 papers

NM_000173.7

p.C33Y

c.98G>A

1 paper

NM_000173.7

p.N37D

c.109A>G

3 papers

NM_000173.7

p.C33S

c.97T>A

5 papers

NM_000173.7

p.C33R

c.97T>C

1 paper

NM_000173.7

p.C33G

c.97T>G

1 paper

NM_000173.7

p.C33Fs

c.97_98delinsCFs

1 paper

NM_000173.7

p.N37S

c.110A>G

1 paper

NM_000173.7

p.N32fs

c.94_95fs