Variant: rs28934872 

    present in Gene: TSC2
    present in Chromosome: 16
    Position on Chromosome: 2070571
    Alleles of this Variant: G/A

rs28934872 in TSC2 gene and Lymphangioleiomyomatosis PMID 10823953 2000 Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

PMID 11829138 2002 Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.

rs28934872 in TSC2 gene and Neoplastic Syndromes, Hereditary PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

PMID 9463313 1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

PMID 11741832 2001 TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

PMID 15483652 2005 Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

rs28934872 in TSC2 gene and TUBEROUS SCLEROSIS 2 (disorder) PMID 15340059 2004 Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.

PMID 12271141 2002 Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

PMID 18302728 2008 Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

PMID 10823953 2000 Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

PMID 15963462 2005 Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

PMID 11741832 2001 TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

PMID 10533067 1999 Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

PMID 8824881 1996 Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

PMID 15024740 2004 Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

PMID 10607950 2000 Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

PMID 9463313 1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

PMID 10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

PMID 15595939 2005 Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

PMID 10735580 1999 Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.

PMID 15483652 2005 Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

PMID 10069705 1999 Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

PMID 10570911 1999 Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

PMID 18308511 2008 Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling.

PMID 9829910 1998 Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

PMID 26703369 2016 Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

PMID 9302281 1997 The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.