E281K (p.Glu281Lys) variant of NPHS2 (Podocin)
E281K (p.Glu281Lys) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Steroid-resistant nephrotic syndrome. The record also includes published literature and structural context.
E281K (p.Glu281Lys) variant details
- p.Glu281Lys
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62635
- UniProt VAR 071238
- Likely pathogenic
- Steroid-resistant nephrotic syndrome
- Missense
- ClinVar: Likely pathogenic (Steroid-resistant nephrotic syndrome)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Structural context available
- Cited in: NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. (PMID 24227627)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)