R5* (p.Arg5Ter) variant of RAI1 (Retinoic acid-induced protein 1)
R5* (p.Arg5Ter) in RAI1 (Retinoic acid-induced protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- rs2143001434
- ClinGen CA398544561
- NCI-TCGA Cosmic COSV5539
- cosmic curated COSV55397
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Smith-Magenis Syndrome. (PMID 20301487)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)