Variant: rs121913135 

    present in Gene: INSR
    present in Chromosome: 19
    Position on Chromosome: 7125437
    Alleles of this Variant: C/A

rs121913135 in INSR gene and Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans PMID 12107746 2002 An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.

PMID 11260230 2001 Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.

PMID 8243830 1993 Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance.

PMID 10733238 2000 Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.

PMID 2002058 1991 Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.

PMID 9175790 1997 Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.

PMID 1963473 1990 Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.

PMID 1563582 1992 Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms.

PMID 2365819 1990 Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.

PMID 2544998 1989 Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.

PMID 3283938 1988 Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing.

PMID 2168397 1990 A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance.

PMID 12970295 2003 Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.

PMID 28765322 2017 Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

PMID 8314008 1994 Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

PMID 8388389 1993 Antibodies to the extracellular receptor domain restore the hormone-insensitive kinase and conformation of the mutant insulin receptor valine 382.

PMID 8288049 1994 Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.