RecName: Full=Voltage-dependent L-type calcium channel subunit alpha-1 - Protein

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Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. [Ophthalmic Genet. 2023]
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.
Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, et al. Ophthalmic Genet. 2023 Apr; 44(2):152-162. Epub 2022 Dec 5.
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling. [J Mol Diagn. 2022]
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
Sallah SR, Sergouniotis PI, Hardcastle C, Ramsden S, Lotery AJ, Lench N, Lovell SC, Black GCM. J Mol Diagn. 2022 Dec; 24(12):1232-1239. Epub 2022 Oct 1.
Identification of a novel CACNA1F mutation in a Chinese family with CORDX3. [Mol Genet Genomic Med. 2022]
Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.
Du M, Li Y, Zheng P, Zhong L, Zhao W, Zhang Y, Gu H, Li X, Liu Z. Mol Genet Genomic Med. 2022 Nov; 10(11):e2060. Epub 2022 Sep 27.

RefSeq genomic sequence
See the genomic reference sequence for the CACNA1F gene (NG_009095.2).
RefSeq protein isoforms
See 7 reference sequence protein isoforms for the CACNA1F gene.

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O60840 [Domain Mapping of Disease Mut...]
O60840
Domain Mapping of Disease Mutations
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Protein