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.G138V

c.413G>T

Surrounding Variants

1 paper

NM_000173.7

p.G138A

c.413G>C

1 paper

NM_000173.7

p.G138G

c.414T>A

5 papers

NM_000173.7

p.L139P

c.416T>C

1 paper

NM_000173.7

p.R137S

c.409C>A

1 paper

NM_000173.7

p.L136_E144delFs

c.407_432del26

1 paper

NM_000173.7

p.E141K

c.421G>A

1 paper

NM_000173.7

p.E141G

c.422A>G

1 paper

NM_000173.7

p.L142_Y146delFs

c.425_437del13

1 paper

NM_000173.7

p.G134V

c.401G>T

1 paper

NM_000173.7

p.E144V

c.431A>T

1 paper

NM_000173.7

p.P132T

c.394C>A

7 papers

NM_000173.7

p.L145P

c.434T>C