N181E (p.Asn181Glu) variant of STK11 (Q15831)
N181E (p.Asn181Glu) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
N181E (p.Asn181Glu) variant details
- p.Asn181Glu
- NCI-TCGA TCGA novel
- Likely pathogenic
- Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely pathogenic (Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic (in sporadic cancer)
- UniProt: Likely pathogenic (in sporadic cancer)
- Structural context available
- Cited in: Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. (PMID 19892943)