Homo sapiens rabphilin 3A (RPH3A), transcript variant 6, mRNA

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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. [Genet Med. 2023]
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, et al. Genet Med. 2023 Nov; 25(11):100922. Epub 2023 Jul 1.
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. [Life Sci Alliance. 2022]
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.
Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, et al. Life Sci Alliance. 2022 Aug 1; 5(12). Epub 2022 Aug 1.
The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside. [J Ginseng Res. 2022]
The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside.
Sun X, Hong Y, Shu Y, Wu C, Ye G, Chen H, Zhou H, Gao R, Zhang J. J Ginseng Res. 2022 Mar; 46(2):266-274. Epub 2021 Jul 8.

RefSeq alternative splicing
See 11 reference mRNA sequence splice variants for the RPH3A gene.
RefSeq protein product
See the reference protein sequence for rabphilin-3A isoform 3 (NP_001334884.1).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
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Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
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PubMed (RefSeq)
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PubMed (Weighted)
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ankyrin repeat and SOCS box protein 10 [Rattus norvegicus]
ankyrin repeat and SOCS box protein 10 [Rattus norvegicus]
gi|157822693|ref|NP_001102686.1|

Protein

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Nucleotide