Variant: rs879255514 

    present in Gene: ITGA2B
    present in Chromosome: 17
    Position on Chromosome: 44372407
    Alleles of this Variant: C/T

rs879255514 in ITGA2B gene and Glanzmann Thrombasthenia, Autosomal Dominant PMID 21454453 2011 Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.

PMID 9834222 1998 R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome.

rs879255514 in ITGA2B gene and Thrombasthenia PMID 15099289 2004 Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia.

PMID 12083483 2002 Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.

PMID 9473221 1998 Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.

PMID 9215749 1997 Hematologically important mutations: Glanzmann thrombasthenia.

PMID 9763559 1998 A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia.

PMID 8282784 1994 Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

PMID 15219201 2004 A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation.

PMID 9734640 1998 Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.

PMID 20020534 2010 AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

PMID 12506038 2003 A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects.

PMID 12424194 2003 Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis.

PMID 9920835 1999 Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.

PMID 12181054 2002 A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia.

PMID 11798398 2001 Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.

PMID 10607701 2000 A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3.

PMID 17018384 2006 Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27.

PMID 7706461 1995 Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association.

PMID 8704171 1996 Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3.

PMID 7508443 1994 A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex.

PMID 9722314 1998 Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.