Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), trans - Nucleotide

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A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings. [Am J Med Genet A. 2024]
A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.
Goldfarb Yaacobi R, Sukenik Halevy R. Am J Med Genet A. 2024 Apr; 194(4):e63503. Epub 2023 Dec 20.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review. [Genes (Basel). 2023]
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, et al. Genes (Basel). 2023 Aug 23; 14(9). Epub 2023 Aug 23.
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4-Associated Factors, Cellular Functions, and Protein Substrates. [Mol Cell Proteomics. 2023]
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4-Associated Factors, Cellular Functions, and Protein Substrates.
Raisch J, Dubois ML, Groleau M, Lévesque D, Burger T, Jurkovic CM, Brailly R, Marbach G, McKenna A, Barrette C, et al. Mol Cell Proteomics. 2023 Oct; 22(10):100644. Epub 2023 Sep 7.

RefSeq alternative splicing
See 83 reference mRNA sequence splice variants for the CHD3 gene.
RefSeq protein product
See the reference protein sequence for chromodomain-helicase-DNA-binding protein 3 isoform 1 (NP_001005273.1).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide