rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.
2002058
1991
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
28765322
2017
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.
2544998
1989
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.
1963473
1990
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.
12107746
2002
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance.
8243830
1993
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms.
1563582
1992
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
C
0.800
CausalMutation
CLINVAR
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.
8314008
1994
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing.
3283938
1988
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.
10733238
2000
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance.
2168397
1990
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.
9175790
1997
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.
8288049
1994
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
2365819
1990
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.
11260230
2001
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Antibodies to the extracellular receptor domain restore the hormone-insensitive kinase and conformation of the mutant insulin receptor valine 382.
8388389
1993
rs121913147
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.800
GeneticVariation
UNIPROT
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
12970295
2003