L260P (p.Leu260Pro) variant of INSR (Insulin receptor)
L260P (p.Leu260Pro) 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.
L260P (p.Leu260Pro) variant details
- p.Leu260Pro
- rs121913141
- ClinGen CA124227
- ClinVar RCV000015804
- UniProt VAR 004085
- Pathogenic
- Leprechaunism syndrome
- Missense
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Structural context available
- Cited in: A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. (PMID 2479553)
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)