K112* (p.Lys112Ter) variant of NPC2 (P61916)
K112* (p.Lys112Ter) in NPC2 (P61916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
K112* (p.Lys112Ter) variant details
- p.Lys112Ter
- rs2086687425
- ClinGen CA390532293
- ClinVar RCV001263848
- Ensembl rs2086687425
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)