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.L193P

c.578T>C

Surrounding Variants

4 papers

NM_000173.7

p.L195del1

c.583_584delCTC

3 papers

NM_000173.7

p.L194F

c.580C>T

1 paper

NM_000173.7

p.T192S

c.575C>G

1 paper

NM_000173.7

p.D191N

c.571G>A

5 papers

NM_000173.7

p.Q196*

c.586C>T

2 papers

NM_000173.7

p.E197K

c.589G>A

1 paper

NM_000173.7

p.N185S

c.554A>G

1 paper

NM_000173.7

p.N185D

c.553A>G

3 papers

NM_000173.7

p.N185_E197del0

c.555_590del36

1 paper

NM_000173.7

p.L183F

c.547C>T

1 paper

NM_000173.7

p.G182R

c.544G>A

3 papers

NM_000173.7

p.L179del1

c.535_536delCTC