K148* (p.Lys148Ter) variant of INSR (Insulin receptor)
K148* (p.Lys148Ter) in INSR (Insulin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K148* (p.Lys148Ter) variant details
- p.Lys148Ter
- rs121913155
- ClinGen CA124259
- ClinVar RCV000015820
- Ensembl rs121913155
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)
- Cited in: Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. (PMID 8101305)