Homo sapiens popeye domain cAMP effector 1 (POPDC1), transcript varian - Nucleotide

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Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. [Acta Neuropathol Commun. 2023]
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
Swan AH, Schindler RFR, Savarese M, Mayer I, Rinné S, Bleser F, Schänzer A, Hahn A, Sabatelli M, Perna F, et al. Acta Neuropathol Commun. 2023 Jan 9; 11(1):4. Epub 2023 Jan 9.
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25. [Clin Genet. 2023]
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
Mahmood A, Samad A, Shah AA, Wadood A, Alkathiri A, Alshehri MA, Alam MZ, Hussain T, He P, Umair M. Clin Genet. 2023 Feb; 103(2):219-225. Epub 2022 Oct 17.
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1). [Mol Genet Metab. 2022]
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Gangfuß A, Hentschel A, Heil L, Gonzalez M, Schönecker A, Depienne C, Nishimura A, Zengeler D, Kohlschmidt N, Sickmann A, et al. Mol Genet Metab. 2022 Jul; 136(3):226-237. Epub 2022 May 29.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the POPDC1 gene.
RefSeq protein product
See the reference protein sequence for blood vessel epicardial substance (NP_009004.2).

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Protein sequence from Nucleotide coding region
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Nucleotide