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.K350N

c.1050G>C

Surrounding Variants

1 paper

NM_000173.7

p.E351K

c.1051G>A

2 papers

NM_000173.7

p.E347*

c.1039G>T

3 papers

NM_000173.7

p.F355insFs

c.1064dupT

2 papers

NM_000173.7

p.F355del1

c.1063_1064delTTC

4 papers

NM_000173.7

p.Q346*

c.1036C>T

1 paper

NM_000173.7

p.P357T

c.1069C>A

1 paper

NM_000173.7

p.P357fs

c.1069_1070fs

2 papers

NM_000173.7

p.R358R

c.1074A>G

1 paper

NM_000173.7

p.W359fs

c.1075_1076fs

3 papers

NM_000173.7

p.W359delFs

c.1077delG

4 papers

NM_000173.7

p.W359*

c.1076G>A

5 papers

NM_000173.7

p.W359*

c.1077G>A