Q122* (p.Gln122Ter) variant of ATP13A2 (Q9NQ11)

Name: ATP13A2 Q122* (p.Gln122Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

Q122* (p.Gln122Ter) in ATP13A2 (Q9NQ11) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q122* (p.Gln122Ter) variant details

p.Gln122Ter
rs1057519292
ClinGen CA16043960
ClinVar RCV000415546
ClinVar RCV004767251
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). (PMID 28137957)
Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)