FGD1, partial [Homo sapiens]

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Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features. [Am J Med Genet A. 2022]
Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.
Bayat A, Krett B, Dunø M, Torring PM, Vissing J. Am J Med Genet A. 2022 Jul; 188(7):2251-2257. Epub 2022 Apr 7.
Silencing FYVE, RhoGEF, and PH domain containing 1 (FGD1) suppresses melanoma progression by inhibiting PI3K/AKT signaling pathway. [Bioengineered. 2021]
Silencing FYVE, RhoGEF, and PH domain containing 1 (FGD1) suppresses melanoma progression by inhibiting PI3K/AKT signaling pathway.
Niu Z, Li Y, Xu Y, Jiang W, Tao R, Chen Y, Han Y. Bioengineered. 2021 Dec; 12(2):12193-12205.
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly. [Am J Med Genet A. 2021]
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
Kessel I, German A, Peleg A, Regeneron Genetics Center, Gonzaga-Jauregui C, Paperna T, Ekhilevitch N, Kurolap A, Baris Feldman H, Sagi-Dain L. Am J Med Genet A. 2021 Oct; 185(10):3161-3166. Epub 2021 Jun 19.

RefSeq genomic sequence
See the genomic reference sequence for the FGD1 gene (NG_008054.1).
RefSeq protein
See the reference protein sequence for FYVE, RhoGEF and PH domain-containing protein 1 (NP_004454.2).

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