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.P132T

c.394C>A

Surrounding Variants

1 paper

NM_000173.7

p.S130S

c.390G>A

1 paper

NM_000173.7

p.S130fs

c.388_389fs

1 paper

NM_000173.7

p.G134V

c.401G>T

1 paper

NM_000173.7

p.T129delFs

c.387delC

1 paper

NM_000173.7

p.L128R

c.383T>G

1 paper

NM_000173.7

p.L136_E144delFs

c.407_432del26

6 papers

NM_000173.7

p.R127Q

c.380G>A

1 paper

NM_000173.7

p.R137S

c.409C>A

1 paper

NM_000173.7

p.N126K

c.378C>A

1 paper

NM_000173.7

p.N126K

c.378C>G

1 paper

NM_000173.7

p.N126I

c.377A>T

6 papers

NM_000173.7

p.N126D

c.376A>G