Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript v - Nucleotide

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Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II. [Taiwan J Obstet Gynecol. 2024]
Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
Chen CP, Huang JP, Huang KS, Chen YY, Wu FT, Pan YT, Chiu CL, Wang W. Taiwan J Obstet Gynecol. 2024 May; 63(3):387-390.
Elucidating the Role of Wildtype and Variant FGFR2 Structural Dynamics in (Dys)Function and Disorder. [Int J Mol Sci. 2024]
Elucidating the Role of Wildtype and Variant FGFR2 Structural Dynamics in (Dys)Function and Disorder.
Lian Y, Bodian D, Shehu A. Int J Mol Sci. 2024 Apr 20; 25(8). Epub 2024 Apr 20.
Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing. [Orphanet J Rare Dis. 2024]
Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.
Xu N, Hung KL, Gong X, Fan D, Tian Y, Yan M, Wei Y, Wang S. Orphanet J Rare Dis. 2024 Apr 1; 19(1):141. Epub 2024 Apr 1.

RefSeq protein product
See the reference protein sequence for fibroblast growth factor receptor 2 isoform 4 precursor (NP_001138386.1).

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Nucleotide