Homo sapiens sodium voltage-gated channel alpha subunit 2 (SCN2A), tra - Nucleotide

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Pathogenic gating pore current conducted by autism-related mutations in the Na(V)1.2 brain sodium channel. [Proc Natl Acad Sci U S A. 2024]
Pathogenic gating pore current conducted by autism-related mutations in the Na(V)1.2 brain sodium channel.
Eltokhi A, Lundstrom BN, Li J, Zweifel LS, Catterall WA, Gamal El-Din TM. Proc Natl Acad Sci U S A. 2024 Apr 9; 121(15):e2317769121. Epub 2024 Apr 2.
Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy. [J Neurosci. 2024]
Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
Mao M, Mattei C, Rollo B, Byars S, Cuddy C, Berecki G, Heighway J, Pachernegg S, Menheniott T, Apted D, et al. J Neurosci. 2024 Feb 21; 44(8). Epub 2024 Feb 21.
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. [Eur J Hum Genet. 2024]
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L, I.B.AHC Consortium, et al. Eur J Hum Genet. 2024 Feb; 32(2):224-231. Epub 2023 Dec 14.

RefSeq protein product
See the reference protein sequence for sodium channel protein type 2 subunit alpha isoform 2 (NP_001035233.1).

Protein
Protein sequence from Nucleotide coding region
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Nav1.2 [Guide to Pharmacology]
Nav1.2
Guide to Pharmacology
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Homologene neighbors for GEO Profiles (Select 23645989) (0)
GEO Profiles
Homologene neighbors for GEO Profiles (Select 23648003) (0)
GEO Profiles
PubChem Compound Links for Gene (Select 242425) (23)
PubChem Compound
eukaryotic translation initiation factor iso4E [Vasconcellea monoica]
eukaryotic translation initiation factor iso4E [Vasconcellea monoica]
gi|829583223|gb|AKL79685.1|

Protein
Gene Links for GEO Profiles (Select 23629795) (1)
Gene

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Nucleotide