ITGA2B, integrin subunit alpha 2b, 3674

N. diseases: 20; N. variants: 30
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852907
rs137852907
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
dbSNP: rs137852908
rs137852908
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
dbSNP: rs137852911
rs137852911
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
dbSNP: rs137852907
rs137852907
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27. 17018384 2006
dbSNP: rs137852908
rs137852908
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27. 17018384 2006
dbSNP: rs137852911
rs137852911
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27. 17018384 2006
dbSNP: rs137852907
rs137852907
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation. 15219201 2004
dbSNP: rs137852907
rs137852907
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. 15099289 2004
dbSNP: rs137852908
rs137852908
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. 15099289 2004
dbSNP: rs137852908
rs137852908
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation. 15219201 2004
dbSNP: rs137852911
rs137852911
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation. 15219201 2004
dbSNP: rs137852911
rs137852911
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. 15099289 2004
dbSNP: rs137852907
rs137852907
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. 12424194 2003
dbSNP: rs137852907
rs137852907
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT 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. 12506038 2003
dbSNP: rs137852908
rs137852908
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. 12424194 2003
dbSNP: rs137852908
rs137852908
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT 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. 12506038 2003
dbSNP: rs137852911
rs137852911
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT 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. 12506038 2003
dbSNP: rs137852911
rs137852911
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. 12424194 2003
dbSNP: rs137852907
rs137852907
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. 12181054 2002
dbSNP: rs137852907
rs137852907
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. 12083483 2002
dbSNP: rs137852908
rs137852908
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. 12181054 2002
dbSNP: rs137852908
rs137852908
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. 12083483 2002
dbSNP: rs137852911
rs137852911
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. 12181054 2002
dbSNP: rs137852911
rs137852911
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. 12083483 2002
dbSNP: rs137852907
rs137852907
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
CUI: C0040015
Disease:
Thrombasthenia 		0.810 GeneticVariation UNIPROT Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. 11798398 2001