K641R (p.Lys641Arg) variant of FGFR2 (P21802)
K641R (p.Lys641Arg) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome. The record also includes published literature and structural context.
K641R (p.Lys641Arg) variant details
- p.Lys641Arg
- rs1057519047
- ClinGen CA16043905
- cosmic curated COSV60644
- ClinVar RCV000415480
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome)
- EBI: Pathogenic (in PS)
- UniProt: Pathogenic (in PS)
- 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)