E484D (p.Glu484Asp) variant of TERT (Telomerase reverse transcriptase)
E484D (p.Glu484Asp) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dyskeratosis congenita, autosomal dominant 2. The record also includes published literature and structural context.
E484D (p.Glu484Asp) variant details
- p.Glu484Asp
- rs2478409320
- ClinVar RCV004560349
- Pathogenic
- Dyskeratosis congenita, autosomal dominant 2
- Missense
- ClinVar: Pathogenic (Dyskeratosis congenita, autosomal dominant 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)