N42K (p.Asn42Lys) variant of INSR (Insulin receptor)
N42K (p.Asn42Lys) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rabson-Mendenhall syndrome. The record also includes published literature and structural context.
N42K (p.Asn42Lys) variant details
- p.Asn42Lys
- rs121913143
- ClinGen CA124231
- ClinVar RCV000015806
- UniProt VAR 004079
- Pathogenic
- Rabson-Mendenhall syndrome
- Missense
- ClinVar: Pathogenic (Rabson-Mendenhall syndrome)
- EBI: Pathogenic (in RMS)
- UniProt: Pathogenic (in RMS)
- Structural context available
- Cited in: Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation… (PMID 2121734)
- Cited in: Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. (PMID 2365819)