Q2* (p.Gln2Ter) variant of TBK1 (Q9UHD2)
Q2* (p.Gln2Ter) in TBK1 (Q9UHD2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- rs1555201919
- ClinGen CA385592734
- ClinVar RCV003058387
- Ensembl rs1555201919
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)