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.S55fs

c.163_164fs

Surrounding Variants

1 paper

NM_000173.7

p.S55R

c.163A>C

1 paper

NM_000173.7

p.S55C

c.163A>T

2 papers

NM_000173.7

p.S55fs

c.163_164fs

1 paper

NM_000173.7

p.S55R

c.165T>A

1 paper

NM_000173.7

p.S55R

c.165T>G

1 paper

NM_000173.7

p.E56del1

c.166_167delGAG

1 paper

NM_000173.7

p.L54V

c.160C>G

3 papers

NM_000173.7

p.S55_E56delFs

c.165_168del4

10 papers

NM_000173.7

p.N57H

c.169A>C

3 papers

NM_000173.7

p.N57D

c.169A>G

1 paper

NM_000173.7

p.H53_A65del13

c.157_194del39

1 paper

NM_000173.7

p.N57K

c.171C>A