K289E (p.Lys289Glu) variant of NPHS2 (Podocin)
K289E (p.Lys289Glu) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Nephrotic syndrome, type 2. The record also includes published literature and structural context.
K289E (p.Lys289Glu) variant details
- p.Lys289Glu
- rs2526191812
- ClinGen CA343566027
- ClinVar RCV003724098
- ClinVar RCV005003698
- Likely pathogenic
- not provided; Nephrotic syndrome, type 2
- Missense
- ClinVar: Likely pathogenic (not provided; Nephrotic syndrome, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)