Y43* (p.Tyr43Ter) variant of POT1 (Q9NUX5)
Y43* (p.Tyr43Ter) in POT1 (Q9NUX5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y43* (p.Tyr43Ter) variant details
- p.Tyr43Ter
- rs2485505371
- ClinGen CA369061727
- ClinVar RCV003585449
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)