Q187H (p.Gln187His) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Q187H (p.Gln187His) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atrial septal defect 7. The record also includes published literature and structural context.
Q187H (p.Gln187His) variant details
- p.Gln187His
- UniProt VAR 038233
- Likely pathogenic
- Atrial septal defect 7
- Missense
- ClinVar: Likely pathogenic (Atrial septal defect 7)
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Structural context available
- Cited in: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PMID 15810002)
- Cited in: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PMID 10587520)