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.M1R

c.2T>G

Surrounding Variants

1 paper

NM_000173.7

p.M1T

c.2T>C

1 paper

NM_000173.7

p.M1L

c.1A>C

1 paper

NM_000173.7

p.M1_P2insFs

c.3_4insT

2 papers

NM_000173.7

p.P2_L3delFs

c.4_7del4

1 paper

NM_000173.7

p.P2S

c.4C>T

6 papers

NM_000173.7

p.P2L

c.5C>T

1 paper

NM_000173.7

p.L5del1

c.13_15delCTC

2 papers

NM_000173.7

p.L4_L7del4

c.10_20del12

1 paper

NM_000173.7

p.L8_P11del0

c.23_31del9

3 papers

NM_000173.7

p.L7P

c.20T>C

1 paper

NM_000173.7

p.L7delFs

c.21delG

1 paper

NM_000173.7

p.L8fs

c.22_23fs