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.M338fs

c.1012_1013fs

Surrounding Variants

2 papers

NM_000173.7

p.M338del1

c.1012_1013delATG

1 paper

NM_000173.7

p.M338insFs

c.1012dupA

1 paper

NM_000173.7

p.P339_S340insGA

c.1015_1019ins6

1 paper

NM_000173.7

p.M338delFs

c.1012delA

1 paper

NM_000173.7

p.S341C

c.1022C>G

1 paper

NM_000173.7

p.T331A

c.991A>G

4 papers

NM_000173.7

p.Q346*

c.1036C>T

1 paper

NM_000173.7

p.W329*

c.987G>A

2 papers

NM_000173.7

p.E347*

c.1039G>T

1 paper

NM_000173.7

p.K350N

c.1050G>C

1 paper

NM_000173.7

p.E351K

c.1051G>A

1 paper

NM_000173.7

p.W323_G324ins10

c.967_971ins30