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.L73P

c.218T>C

Surrounding Variants

12 papers

NM_000173.7

p.L73F

c.217C>T

1 paper

NM_000173.7

p.L76fs

c.226_227fs

1 paper

NM_000173.7

p.L76R

c.227T>G

9 papers

NM_000173.7

p.Y70D

c.208T>G

1 paper

NM_000173.7

p.Y70fs

c.208_209fs

6 papers

NM_000173.7

p.P69L

c.206C>T

3 papers

NM_000173.7

p.L78R

c.233T>G

1 paper

NM_000173.7

p.M68fs

c.202_203fs

2 papers

NM_000173.7

p.D79del1

c.235_236delGAT

1 paper

NM_000173.7

p.D79_E82del0

c.236_244del9

3 papers

NM_000173.7

p.D79insFs

c.236dupA

1 paper

NM_000173.7

p.D79fs

c.235_236fs