Homo sapiens low density lipoprotein receptor (LDLR), transcript varia - Nucleotide

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Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor. [Sci Rep. 2024]
Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.
Pussadhamma B, Wongvipaporn C, Wutthimanop A, Nuinoon M, Porntadavity S, Jeenduang N. Sci Rep. 2024 Mar 21; 14(1):6785. Epub 2024 Mar 21.
High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico. [Arch Med Res. 2024]
High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.
Rodríguez-Gutiérrez PG, Hernández-Flores TJ, Zepeda-Olmos PM, Reyes-Rodríguez CD, Robles-Espinoza K, Solís-Gómez U, González-García JR, Magaña-Torres MT. Arch Med Res. 2024 Apr; 55(3):102971. Epub 2024 Mar 20.
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR. [Mol Genet Genomic Med. 2024]
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.
Song Y, Elwafa RAHA, Omar OM, Seo GH, Lee H. Mol Genet Genomic Med. 2024 Mar; 12(3):e2410.

RefSeq alternative splicing
See 10 reference mRNA sequence splice variants for the LDLR gene.
RefSeq protein product
See the reference protein sequence for low-density lipoprotein receptor isoform 4 precursor (NP_001182729.1).

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Protein sequence from Nucleotide coding region
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Nucleotide