Variant: rs121918447

present in Gene: ITGB3;THCAT158 present in Chromosome: 17 Position on Chromosome: 47310169 Alleles of this Variant: T/C

rs121918447 in ITGB3;THCAT158 gene and Thrombasthenia 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 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.

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

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

PMID 15748237 2005 Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian 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 10233432 1999 Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.

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

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

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 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 8781422 1996 A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.

PMID 9215749 1997 Hematologically important mutations: Glanzmann thrombasthenia.

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

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

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