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.D44G

c.131A>G

Surrounding Variants

3 papers

NM_000173.7

p.P46P

c.138G>A

2 papers

NM_000173.7

p.P42_T49delFs

c.124_145del22

1 paper

NM_000173.7

p.K47I

c.140A>T

1 paper

NM_000173.7

p.A40delFs

c.119delC

1 paper

NM_000173.7

p.N37S

c.110A>G

3 papers

NM_000173.7

p.L52insFs

c.154dupC

1 paper

NM_000173.7

p.N37D

c.109A>G

1 paper

NM_000173.7

p.L52fs

c.154_155fs

2 papers

NM_000173.7

p.L52fs

c.154_155fs

1 paper

NM_000173.7

p.L52P

c.155T>C

4 papers

NM_000173.7

p.R36G

c.106A>G

1 paper

NM_000173.7

p.H53_A65del13

c.157_194del39