R113P (p.Arg113Pro) variant of INSR (Insulin receptor)
R113P (p.Arg113Pro) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leprechaunism syndrome. The record also includes published literature and structural context.
R113P (p.Arg113Pro) variant details
- p.Arg113Pro
- rs121913153
- ClinGen CA124255
- ClinVar RCV000015818
- UniProt VAR 004082
- Pathogenic
- Leprechaunism syndrome
- Missense
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Structural context available
- Cited in: Genotype-phenotype correlation in inherited severe insulin resistance. (PMID 12023989)
- Cited in: Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance. (PMID 1315125)