C385R (p.Cys385Arg) variant of WT1 (Wilms tumor protein)
C385R (p.Cys385Arg) in WT1 (Wilms tumor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Wilms tumor 1; 11p partial monosomy syndrome; Drash syndrome. The record also includes published literature.
C385R (p.Cys385Arg) variant details
- p.Cys385Arg
- UniProt VAR 015058
- Pathogenic
- Wilms tumor 1; 11p partial monosomy syndrome; Drash syndrome
- Missense
- ClinVar: Pathogenic (Wilms tumor 1; 11p partial monosomy syndrome; Drash syndrome)
- EBI: Pathogenic (in DDS)
- UniProt: Pathogenic (in DDS)
- Cited in: Constitutional WT1 correlate with clinical features in children with progressive nephropathy. (PMID 11182928)
- Cited in: Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? (PMID 9475094)