N188K (p.Asn188Lys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
N188K (p.Asn188Lys) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 7. The record also includes published literature and structural context.
N188K (p.Asn188Lys) variant details
- p.Asn188Lys
- UniProt VAR 010117
- Pathogenic
- Atrial septal defect 7
- Missense
- ClinVar: Pathogenic (Atrial septal defect 7)
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Structural context available
- Cited in: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PMID 10587520)
- Cited in: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PMID 15810002)