E565G (p.Glu565Gly) variant of FGFR2 (P21802)
E565G (p.Glu565Gly) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. The record also includes published literature and structural context.
E565G (p.Glu565Gly) variant details
- p.Glu565Gly
- rs121918506
- ClinGen CA16043906
- cosmic curated COSV10967
- ClinVar RCV000415495
- Pathogenic/Likely pathogenic
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Antley-Bixler syndrome without genital anomalies or disordered s)
- 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)