S23F (p.Ser23Phe) variant of REEP1 (Q9H902)
S23F (p.Ser23Phe) in REEP1 (Q9H902) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SPG31. The record also includes published literature and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- NCI-TCGA Cosmic COSV5126
- cosmic curated COSV51260
- UniProt VAR 067266
- Pathogenic
- in SPG31
- Missense
- EBI: Pathogenic (in SPG31)
- UniProt: Pathogenic (in SPG31)
- Structural context available
- Cited in: REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial… (PMID 21618648)
- Cited in: Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. (PMID 24478229)