K526E (p.Lys526Glu) variant of FGFR2 (P21802)
K526E (p.Lys526Glu) 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.
K526E (p.Lys526Glu) variant details
- p.Lys526Glu
- rs121918507
- ClinGen CA122996
- ClinVar RCV000014220
- ClinVar RCV000014221
- 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 FSPC)
- UniProt: Pathogenic (in FSPC)
- Structural context available
- Cited in: Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. (PMID 16061565)
- Cited in: A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. (PMID 17803937)