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.K317N

c.951A>C

Surrounding Variants

1 paper

NM_000173.7

p.K317N

c.951A>T

1 paper

NM_000173.7

p.T316fs

c.946_947fs

1 paper

NM_000173.7

p.T321delFs

c.962delC

3 papers

NM_000173.7

p.F314insFs

c.941dupT

2 papers

NM_000173.7

p.F314del1

c.940_941delTTC

1 paper

NM_000173.7

p.K313_K317del5

c.937_950del15

1 paper

NM_000173.7

p.W323_G324ins10

c.967_971ins30

1 paper

NM_000173.7

p.V311G

c.932T>G

1 paper

NM_000173.7

p.V311fs

c.931_932fs

2 papers

NM_000173.7

p.V311fs

c.931_932fs

3 papers

NM_000173.7

p.V311delFs

c.932_933delTG

1 paper

NM_000173.7

p.A307V

c.920C>T