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

2 papers

NM_000173.7

p.L115P

c.344T>C

Surrounding Variants

1 paper

NM_000173.7

p.T114fs

c.340_341fs

2 papers

NM_000173.7

p.Q113_T114insFs

c.339_340insGA

2 papers

NM_000173.7

p.Q113R

c.338A>G

1 paper

NM_000173.7

p.T114insFs

c.340_341insGA

2 papers

NM_000173.7

p.Q113del1

c.337_338delCAG

1 paper

NM_000173.7

p.T119A

c.355A>G

1 paper

NM_000173.7

p.L111Q

c.332T>A

1 paper

NM_000173.7

p.V120I

c.358G>A

1 paper

NM_000173.7

p.L121_F125delFs

c.363_373del11

2 papers

NM_000173.7

p.L110*

c.329T>A

1 paper

NM_000173.7

p.L121L

c.361C>T

1 paper

NM_000173.7

p.D122delFs

c.366delC