RecName: Full=Splicing factor U2AF 65 kDa subunit; AltName: Full=U2 au - Protein

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A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy. [Am J Med Genet A. 2023]
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Kuroda Y, Matsufuji M, Enomoto Y, Osaka H, Takanashi JI, Yamamoto T, Numata-Uematsu Y, Tabata K, Kurosawa K, Inoue K. Am J Med Genet A. 2023 Aug; 191(8):2245-2248. Epub 2023 May 3.
U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy. [Am J Med Genet A. 2023]
U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy.
Kittock CM, Saifeddine M, Straight L, Ward DI. Am J Med Genet A. 2023 Jul; 191(7):1968-1972. Epub 2023 Apr 24.
A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases. [J Hum Genet. 2023]
A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases.
Wang X, You B, Yin F, Chen C, He H, Liu F, Pan Z, Ni X, Pang N, Peng J. J Hum Genet. 2023 Jun; 68(6):375-382. Epub 2023 Feb 7.

RefSeq genomic sequence
See the genomic reference sequence for the U2AF2 gene (NG_032904.1).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the U2AF2 gene.

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P26368 [Domain Mapping of Disease Mut...]
P26368
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
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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