G242R (p.Gly242Arg) variant of STK11 (Q15831)
G242R (p.Gly242Arg) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Peutz-Jeghers syndrome. The record also includes published literature and structural context.
G242R (p.Gly242Arg) variant details
- p.Gly242Arg
- rs878853992
- ClinGen CA402949962
- cosmic curated COSV58824
- ClinVar RCV000690196
- Pathogenic
- Peutz-Jeghers syndrome
- Missense
- ClinVar: Pathogenic (Peutz-Jeghers syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Peutz-Jeghers Syndrome. (PMID 20301443)