KIAA1330 protein, partial [Homo sapiens]

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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. [Eur Heart J. 2021]
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, et al. Eur Heart J. 2021 Aug 21; 42(32):3063-3073.
A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy. [Circ Genom Precis Med. 2020]
A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.
Cheawsamoot C, Phokaew C, Chetruengchai W, Chantranuwat P, Puwanant S, Tongsima S, Khongphatthanayothin A, Shotelersuk V. Circ Genom Precis Med. 2020 Dec; 13(6):e003127. Epub 2020 Nov 15.
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants. [Genes (Basel). 2020]
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
Jorholt J, Formicheva Y, Vershinina T, Kiselev A, Muravyev A, Demchenko E, Fedotov P, Zlotina A, Rygkov A, Vasichkina E, et al. Genes (Basel). 2020 Oct 15; 11(10). Epub 2020 Oct 15.

RefSeq genomic sequence
See the genomic reference sequence for the ALPK3 gene (NG_054748.1).
RefSeq protein
See the reference protein sequence for alpha-protein kinase 3 (NP_065829.4).

Nucleotide
Nucleotide sequence from coding region
PubMed
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MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

KIAA1330 protein, partial [Homo sapiens]
KIAA1330 protein, partial [Homo sapiens]
gi|7243041|dbj|BAA92568.1|

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