E44A (p.Glu44Ala) variant of NPHS2 (Podocin)
E44A (p.Glu44Ala) in NPHS2 (Podocin) is a missense change. The record also includes published literature and structural context.
E44A (p.Glu44Ala) variant details
- p.Glu44Ala
- UniProt VAR 071214
- Missense
- Structural context available
- Cited in: Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. (PMID 15954915)