R23* (p.Arg23Ter) variant of HNRNPU (Q00839)
R23* (p.Arg23Ter) in HNRNPU (Q00839) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
R23* (p.Arg23Ter) variant details
- p.Arg23Ter
- rs869312701
- ClinGen CA354931
- ClinVar RCV000209838
- Ensembl rs869312701
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.998
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)