K20* (p.Lys20Ter) variant of PALB2 (Partner and localizer of BRCA2)
K20* (p.Lys20Ter) in PALB2 (Partner and localizer of BRCA2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K20* (p.Lys20Ter) variant details
- p.Lys20Ter
- rs2142461082
- ClinGen CA395139930
- ClinVar RCV002223100
- Ensembl rs2142461082
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)