Q54* (p.Gln54Ter) variant of NKX2-1 (Homeobox protein Nkx-2.1)
Q54* (p.Gln54Ter) in NKX2-1 (Homeobox protein Nkx-2.1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q54* (p.Gln54Ter) variant details
- p.Gln54Ter
- rs2139412296
- ClinGen CA389461099
- ClinVar RCV002511775
- ClinVar RCV003336768
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)