chromodomain-helicase-DNA-binding protein 3 isoform X35 [Homo sapiens]

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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.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome. [Genet Med. 2022]
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, et al. Genet Med. 2022 Jun; 24(6):1283-1296. Epub 2022 Mar 26.

RefSeq mRNA
See reference mRNA sequence for the CHD3 gene (XM_047435214.1).
RefSeq protein isoforms
See 83 reference sequence protein isoforms for the CHD3 gene.

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Protein