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.A172T

c.514G>A

Surrounding Variants

1 paper

NM_000173.7

p.A172G

c.515C>G

21 papers

NM_000173.7

p.A172V

c.515C>T

2 papers

NM_000173.7

p.L169P

c.506T>C

1 paper

NM_000173.7

p.N175D

c.523A>G

1 paper

NM_000173.7

p.K168ins0

c.502_504dupAAG

3 papers

NM_000173.7

p.L179del1

c.535_536delCTC

2 papers

NM_000173.7

p.K165_K168del4

c.493_503del12

1 paper

NM_000173.7

p.P164insFs

c.491dupC

1 paper

NM_000173.7

p.T163K

c.488C>A

1 paper

NM_000173.7

p.G182R

c.544G>A

1 paper

NM_000173.7

p.T161T

c.483G>A

17 papers

NM_000173.7

p.T161M

c.482C>T