Variant: rs121918444 

    present in Gene: ITGB3
    present in Chromosome: 17
    Position on Chromosome: 47286364
    Alleles of this Variant: G/A

rs121918444 in ITGB3 gene and Thrombasthenia PMID 10233432 1999 Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.

PMID 11897046 2002 A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.

PMID 9790984 1998 Three novel integrin beta3 subunit missense mutations (H280P, C560F, and G579S) in thrombasthenia, including one (H280P) prevalent in Japanese patients.

PMID 11588040 2001 A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype.

PMID 9376589 1997 A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by preventing alphaIIb beta3 export to the platelet surface.

PMID 15634267 2005 Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in 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 8781422 1996 A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.

PMID 1438206 1992 Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.

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

PMID 15583747 2004 A variant thrombasthenic phenotype associated with compound heterozygosity of integrin beta3-subunit: (Met124Val)beta3 alters the subunit dimerization rendering a decreased number of constitutive active alphaIIbbeta3 receptors.

PMID 29084015 2017 Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations.

PMID 12353082 2002 Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3.

PMID 9684783 1998 A Ser162-->Leu mutation within glycoprotein (GP) IIIa (integrin beta3) results in an unstable alphaIIbbeta3 complex that retains partial function in a novel form of type II Glanzmann thrombasthenia.

PMID 9215749 1997 Hematologically important mutations: Glanzmann thrombasthenia.

PMID 15748237 2005 Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.

PMID 2392682 1990 A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation.

PMID 1371279 1992 A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.

PMID 1602006 1992 A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.