RecName: Full=FYVE, RhoGEF and PH domain-containing protein 1; AltName - Protein

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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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Protein (RefSeq)
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Related Structures (List)
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P98174 [Domain Mapping of Disease Mut...]
P98174
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=FYVE, RhoGEF and PH domain-containing protein 1; AltName: Full=Fac...
RecName: Full=FYVE, RhoGEF and PH domain-containing protein 1; AltName: Full=Faciogenital dysplasia 1 protein; AltName: Full=Rho/Rac guanine nucleotide exchange factor FGD1; Short=Rho/Rac GEF; AltName: Full=Zinc finger FYVE domain-containing protein 3
gi|28202247|sp|P98174.2|FGD1_HUMAN

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