S52F (p.Ser52Phe) variant of GATA4 (Transcription factor GATA-4)
S52F (p.Ser52Phe) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 2. The record also includes published literature and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- rs104894074
- ClinGen CA212662
- ClinVar RCV000009598
- UniProt VAR 038195
- Pathogenic
- Atrial septal defect 2
- Missense
- ClinVar: Pathogenic (Atrial septal defect 2)
- EBI: Pathogenic (in ASD2)
- UniProt: Pathogenic (in ASD2)
- Structural context available
- Cited in: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PMID 15810002)
- Cited in: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. (PMID 12845333)