H34D (p.His34Asp) variant of INS (Insulin)
H34D (p.His34Asp) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperproinsulinemia. The record also includes published literature and structural context.
H34D (p.His34Asp) variant details
- p.His34Asp
- rs121918101
- ClinGen CA123078
- ClinVar RCV000014308
- UniProt VAR 003971
- Uncertain significance
- Hyperproinsulinemia
- Missense
- ClinVar: Uncertain significance (Hyperproinsulinemia)
- EBI: Pathogenic (in HPRI)
- UniProt: Pathogenic (in HPRI)
- Structural context available
- Cited in: Hyperproinsulinemia in a family with a proposed defect in conversion is linked to the insulin gene. (PMID 2991050)
- Cited in: A mutant human proinsulin is secreted from islets of Langerhans in increased amounts via an unregulated pathway. (PMID 3057496)