guanine nucleotide-binding protein subunit beta-5 isoform X1 [Homo sap - Protein

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Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants. [Clin Genet. 2024]
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
Pijuan J, Vilanova-Adell A, Casas-Alba D, Campistol J, Hoenicka J, Palau F. Clin Genet. 2024 Mar; 105(3):340-342. Epub 2023 Nov 22.
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes. [Genes (Basel). 2021]
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
Shao Z, Masuho I, Tumber A, Maynes JT, Tavares E, Ali A, Hewson S, Schulze A, Kannu P, Martemyanov KA, et al. Genes (Basel). 2021 Aug 29; 12(9). Epub 2021 Aug 29.
GNB5-Related Neurodevelopmental Disorder. [GeneReviews(®). 1993]
GNB5-Related Neurodevelopmental Disorder.
Poke G, Sadleir LG, Merla G, de Valles-Ibáñez G, Skinner JR. GeneReviews(®). 1993-2024. 2021 Aug 26 [updated 2021 Sep 9]

RefSeq genomic sequence
See the genomic reference sequence for the GNB5 gene (NG_052868.2).
RefSeq mRNA
See reference mRNA sequence for the GNB5 gene (XM_011521162.4).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the GNB5 gene.

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RXYLT1 [Mustela putorius furo]
RXYLT1 [Mustela putorius furo]
Gene ID:101692107

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Protein