K659N (p.Lys659Asn) variant of FGFR2 (P21802)
K659N (p.Lys659Asn) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related craniosynostosis; not provided. The record also includes published literature and structural context.
K659N (p.Lys659Asn) variant details
- p.Lys659Asn
- rs1589722765
- ClinGen CA378314114
- cosmic curated COSV60655
- ClinVar RCV002269634
- Pathogenic
- FGFR2-related craniosynostosis; not provided
- Missense
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; not provided)
- EBI: Pathogenic (in craniosynostosis)
- UniProt: Pathogenic (in craniosynostosis)
- Structural context available
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)
- Cited in: A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. (PMID 17803937)