Homo sapiens ATPase copper transporting alpha (ATP7A), transcript vari - Nucleotide

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Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype. [Eur J Med Genet. 2024]
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Harkness JR, Thomas HB, Urquhart JE, Jamieson P, Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG. Eur J Med Genet. 2024 Feb; 67:104907. Epub 2023 Dec 21.
Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma. [Mol Biol Cell. 2024]
Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma.
Miller SG, Hoh M, Ebmeier CC, Tay JW, Ahn NG. Mol Biol Cell. 2024 Mar 1; 35(3):ar31. Epub 2023 Dec 20.
Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B. [J Cell Sci. 2024]
Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B.
Ruturaj, Mishra M, Saha S, Maji S, Rodriguez-Boulan E, Schreiner R, Gupta A. J Cell Sci. 2024 Mar 1; 137(5). Epub 2023 Nov 30.

RefSeq alternative splicing
See the other reference mRNA sequence splice variant for the ATP7A gene (NM_001282224.2).
RefSeq protein product
See the reference protein sequence for copper-transporting ATPase 1 isoform 1 (NP_000043.4).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide