G393R (p.Gly393Arg) variant of INSR (Insulin receptor)
G393R (p.Gly393Arg) 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.
G393R (p.Gly393Arg) variant details
- p.Gly393Arg
- rs267607184
- ClinGen CA124215
- ClinVar RCV000015795
- UniProt VAR 004086
- Pathogenic
- Leprechaunism syndrome
- Missense
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Structural context available
- Cited in: Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. (PMID 1607067)
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)