Homo sapiens cache domain containing 1 (CACHD1), transcript variant 2, - Nucleotide

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Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. [Genet Med. 2024]
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, et al. Genet Med. 2024 Apr; 26(4):101057. Epub 2023 Dec 27.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing. [Neuro Oncol. 2023]
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing.
Demirdizen E, Al-Ali R, Narayanan A, Sun X, Varga JP, Steffl B, Brom M, Krunic D, Schmidt C, Schmidt G, et al. Neuro Oncol. 2023 Jun 2; 25(6):1031-1043.
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. [Life Sci Alliance. 2022]
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.
Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, et al. Life Sci Alliance. 2022 Aug 1; 5(12). Epub 2022 Aug 1.

RefSeq protein product
See the reference protein sequence for VWFA and cache domain-containing protein 1 isoform 2 (NP_001280203.1).

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Protein sequence from Nucleotide coding region
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Nucleotide