G32R (p.Gly32Arg) variant of INS (Insulin)
G32R (p.Gly32Arg) in INS (Insulin) is a missense change. The available record places it in the context of Permanent neonatal diabetes mellitus. The record also includes published literature and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs80356664
- ClinGen CA341647
- NCI-TCGA Cosmic COSV5174
- cosmic curated COSV51747
- not provided
- Permanent neonatal diabetes mellitus
- Missense
- ClinVar: not provided (Permanent neonatal diabetes mellitus)
- EBI: Pathogenic (in PNDM4)
- UniProt: Pathogenic (in PNDM4)
- Structural context available
- Cited in: Insulin gene mutations as a cause of permanent neonatal diabetes. (PMID 17855560)
- Cited in: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal… (PMID 18162506)