D86G (p.Asp86Gly) variant of INSR (Insulin receptor)
D86G (p.Asp86Gly) in INSR (Insulin receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IRAN type A. The record also includes published literature and structural context.
D86G (p.Asp86Gly) variant details
- p.Asp86Gly
- UniProt VAR 015907
- Pathogenic
- in IRAN type A
- Missense
- EBI: Pathogenic (in IRAN type A)
- UniProt: Pathogenic (in IRAN type A)
- Structural context available
- Cited in: Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin… (PMID 9175790)
- Cited in: Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. (PMID 10733238)