splicing factor U2AF 65 kDa subunit isoform X2 [Panthera pardus]

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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 mRNA
See reference mRNA sequence for the U2AF2 gene (XM_019437785.2).
RefSeq protein isoforms
See the other reference sequence protein isoform for the U2AF2 gene (XP_019293329.1).

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