Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6334
Gene name	Sodium voltage-gated channel alpha subunit 8
Gene symbol	SCN8A
Synonyms (NCBI Gene)	BFIS5CERIIICIATDEE13EIEE13MEDMYOCL2NaCh6Nav1.6PN4
Chromosome	12
Chromosome location	12q13.13
Summary	This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation

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SNP ID	Visualize variation	Clinical significance	Consequence
rs144424662	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs185667241	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200728478	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201045619	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201458257	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202151337	A>G	Pathogenic	Missense variant, coding sequence variant
rs202212399	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs367949317	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Missense variant, coding sequence variant
rs369145855	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs371712630	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs377197765	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514738	C>G	Pathogenic	Missense variant, coding sequence variant
rs587776703	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777721	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs587777722	C>A	Pathogenic	Coding sequence variant, missense variant
rs587777723	A>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs587780454	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs587780455	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs672601319	A>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs751637843	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs758253791	C>T	Pathogenic	Missense variant, coding sequence variant
rs761336234	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs761386688	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs769520392	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs775272996	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs794727128	A>G	Not-provided, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs794727361	G>A	Pathogenic	Missense variant, coding sequence variant
rs794727362	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs796053209	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs796053210	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs796053214	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs796053216	G>A,T	Pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs796053217	A>G	Pathogenic	Missense variant, coding sequence variant
rs796053218	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs796053220	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs796053223	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs796053224	C>T	Pathogenic	Missense variant, coding sequence variant
rs796053227	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs796053228	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs796053229	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs796053233	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs797045013	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863223345	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863225295	T>G	Pathogenic	Missense variant, coding sequence variant
rs869312690	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs869312966	G>T	Pathogenic	Coding sequence variant, missense variant
rs876657399	C>G	Pathogenic	Coding sequence variant, missense variant
rs878853250	T>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs878854973	A>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs879255652	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs879255693	T>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs879255694	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs879255695	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs879255696	T>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs879255697	T>C	Pathogenic	Coding sequence variant, missense variant
rs879255698	G>C	Pathogenic	Coding sequence variant, missense variant
rs879255699	G>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs879255700	T>C	Pathogenic	Coding sequence variant, missense variant
rs879255701	T>A	Pathogenic	Coding sequence variant, missense variant
rs879255702	G>A	Pathogenic	Coding sequence variant, missense variant
rs879255703	T>A	Pathogenic	Coding sequence variant, missense variant
rs879255704	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs879255705	C>G	Pathogenic	Coding sequence variant, missense variant
rs879255706	A>G	Pathogenic	Coding sequence variant, missense variant
rs879255707	T>A,G	Pathogenic	Coding sequence variant, missense variant, stop gained
rs879255708	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs879255709	G>A	Pathogenic	Coding sequence variant, missense variant
rs879255710	C>G	Pathogenic	Coding sequence variant, missense variant
rs879255711	A>T	Pathogenic	Coding sequence variant, missense variant
rs886041670	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs961205540	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1057518356	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518487	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1057518667	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519210	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057519540	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520149	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1057520361	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521662	G>C	Pathogenic	Missense variant, coding sequence variant
rs1057521767	A>C,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1057524820	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793263	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793722	A>G	Pathogenic	Splice donor variant
rs1064793923	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1064794715	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1064794727	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794782	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794873	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307940	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307999	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308013	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691327	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1131691414	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691459	T>G	Likely-pathogenic	Intron variant
rs1135401806	A>T	Pathogenic	Missense variant, coding sequence variant
rs1349215930	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs1490133991	T>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1555218630	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555219495	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555219864	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555225794	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555225835	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1555226079	T>C	Pathogenic	Missense variant, coding sequence variant
rs1555226081	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555226823	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1555228303	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555228665	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555228771	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555228931	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1555229496	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555230909	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555230924	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555230928	T>A,C,G	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1555231010	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555231012	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1565908565	->AAGAAAG	Pathogenic	Frameshift variant, coding sequence variant
rs1565915356	->T	Pathogenic	Stop gained, coding sequence variant
rs1565925940	GACAATGTTGGGGCAGGATA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565934070	C>G	Pathogenic	Missense variant, coding sequence variant
rs1592149711	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1592149771	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1592149876	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592162430	A>G	Pathogenic	Missense variant, coding sequence variant
rs1592174304	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592380687	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1592380699	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1592387849	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1592392873	G>C	Likely-pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT639503	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT639502	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT639501	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT639500	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT639499	hsa-miR-4262	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT639503	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT639502	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT639501	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT639500	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT639499	hsa-miR-4262	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT1330243	hsa-miR-129-5p	CLIP-seq
MIRT1330244	hsa-miR-200b	CLIP-seq
MIRT1330245	hsa-miR-200c	CLIP-seq
MIRT1330246	hsa-miR-3152-3p	CLIP-seq
MIRT1330247	hsa-miR-3161	CLIP-seq
MIRT1330248	hsa-miR-3163	CLIP-seq
MIRT1330249	hsa-miR-3190	CLIP-seq
MIRT1330250	hsa-miR-323-5p	CLIP-seq
MIRT1330251	hsa-miR-33a	CLIP-seq
MIRT1330252	hsa-miR-33b	CLIP-seq
MIRT1330253	hsa-miR-3646	CLIP-seq
MIRT1330254	hsa-miR-3662	CLIP-seq
MIRT1330255	hsa-miR-369-3p	CLIP-seq
MIRT1330256	hsa-miR-374a	CLIP-seq
MIRT1330257	hsa-miR-374b	CLIP-seq
MIRT1330258	hsa-miR-3940-5p	CLIP-seq
MIRT1330259	hsa-miR-4251	CLIP-seq
MIRT1330260	hsa-miR-4275	CLIP-seq
MIRT1330261	hsa-miR-429	CLIP-seq
MIRT1330262	hsa-miR-4303	CLIP-seq
MIRT1330263	hsa-miR-4329	CLIP-seq
MIRT1330264	hsa-miR-4491	CLIP-seq
MIRT1330265	hsa-miR-4507	CLIP-seq
MIRT1330266	hsa-miR-4657	CLIP-seq
MIRT1330267	hsa-miR-4668-3p	CLIP-seq
MIRT1330268	hsa-miR-4680-3p	CLIP-seq
MIRT1330269	hsa-miR-4694-5p	CLIP-seq
MIRT1330270	hsa-miR-4724-5p	CLIP-seq
MIRT1330271	hsa-miR-4742-3p	CLIP-seq
MIRT1330272	hsa-miR-4760-5p	CLIP-seq
MIRT1330273	hsa-miR-544	CLIP-seq
MIRT1330274	hsa-miR-568	CLIP-seq
MIRT1330275	hsa-miR-580	CLIP-seq
MIRT1330276	hsa-miR-629	CLIP-seq
MIRT1330277	hsa-miR-873	CLIP-seq
MIRT1330278	hsa-miR-876-3p	CLIP-seq
MIRT1330279	hsa-miR-148a	CLIP-seq
MIRT1330280	hsa-miR-148b	CLIP-seq
MIRT1330281	hsa-miR-152	CLIP-seq
MIRT1330282	hsa-miR-1825	CLIP-seq
MIRT1330283	hsa-miR-2355-3p	CLIP-seq
MIRT1330284	hsa-miR-30a	CLIP-seq
MIRT1330285	hsa-miR-30b	CLIP-seq
MIRT1330286	hsa-miR-30c	CLIP-seq
MIRT1330287	hsa-miR-30d	CLIP-seq
MIRT1330288	hsa-miR-30e	CLIP-seq
MIRT1330289	hsa-miR-3126-3p	CLIP-seq
MIRT1330290	hsa-miR-3130-5p	CLIP-seq
MIRT1330291	hsa-miR-3136-5p	CLIP-seq
MIRT1330249	hsa-miR-3190	CLIP-seq
MIRT1330251	hsa-miR-33a	CLIP-seq
MIRT1330252	hsa-miR-33b	CLIP-seq
MIRT1330292	hsa-miR-382	CLIP-seq
MIRT1330293	hsa-miR-3929	CLIP-seq
MIRT1330294	hsa-miR-4419b	CLIP-seq
MIRT1330295	hsa-miR-4421	CLIP-seq
MIRT1330296	hsa-miR-4439	CLIP-seq
MIRT1330297	hsa-miR-4478	CLIP-seq
MIRT1330298	hsa-miR-4482	CLIP-seq
MIRT1330264	hsa-miR-4491	CLIP-seq
MIRT1330299	hsa-miR-4513	CLIP-seq
MIRT1330300	hsa-miR-4646-3p	CLIP-seq
MIRT1330266	hsa-miR-4657	CLIP-seq
MIRT1330301	hsa-miR-676	CLIP-seq
MIRT1330277	hsa-miR-873	CLIP-seq
MIRT1330302	hsa-miR-943	CLIP-seq
MIRT2322123	hsa-miR-2278	CLIP-seq
MIRT2322124	hsa-miR-3160-5p	CLIP-seq
MIRT2322125	hsa-miR-4638-3p	CLIP-seq
MIRT1330273	hsa-miR-544	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IDA	29726066
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IC	9828131
GO:0001518	Component	Voltage-gated sodium channel complex	IDA	36696443, 36823201
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0002102	Component	Podosome	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	21078353, 25239001, 29726066, 36696443, 36823201
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	25725044
GO:0005248	Function	Voltage-gated sodium channel activity	NAS	9828131
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	22364545, 25659151, 26900580
GO:0005886	Component	Plasma membrane	IDA	29726066
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	NAS	9828131
GO:0007422	Process	Peripheral nervous system development	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9828131
GO:0030018	Component	Z disc	ISS
GO:0030054	Component	Cell junction	IDA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0031402	Function	Sodium ion binding	IDA	36823201
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033268	Component	Node of Ranvier	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042552	Process	Myelination	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043194	Component	Axon initial segment	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA

MIM	HGNC	e!Ensembl
600702	10596	ENSG00000196876

Q9UQD0

Protein name

Sodium channel protein type 8 subunit alpha (Sodium channel protein type VIII subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.6)

Protein function

Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradient (Pu

PDB

8FHD , 8GZ1 , 8GZ2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	131 → 422	Ion transport protein	Family
PF11933	Na_trans_cytopl	499 → 702	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	752 → 987	Ion transport protein	Family
PF06512	Na_trans_assoc	991 → 1193	Sodium ion transport-associated	Family
PF00520	Ion_trans	1197 → 1474	Ion transport protein	Family
PF00520	Ion_trans	1521 → 1777	Ion transport protein	Family
PF00612	IQ	1896 → 1916	IQ calmodulin-binding motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Expressed in the hippocampus with increased expression in epileptic tissue compared to normal adjacent tissue (at protein level) (PubMed:28842554). {ECO:0000269|PubMed:28842554}.; TISSUE SPECIFICITY: [Isoform 5]: Expressed in non-neuro

Sequence

MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLE
AGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNL
IRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIAR
GFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTI
VGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGF
DWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAF
LALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQA
TLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEI
SKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKF
SIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDS
LFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIG
GRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCP
PCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQ
FEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGL
SVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKS
YKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMV
MVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQ
AHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIID
EDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIK
PEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWF
ETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFF
TNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNAL
VGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLM
EGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYM
YIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKP
QKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLV
FVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIR
LARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEA
GIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPS
VGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDAT
QFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSG
ELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKT
TSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC

Sequence length

1980

Interactions

View interactions

	Reactome
			Phase 0 - rapid depolarisation

2317

Show/Hide Causal Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis multiplex congenita	Likely pathogenic	rs1592387849	RCV000855503
Autism	Likely pathogenic	rs1085307999	RCV000851494
Autosomal recessive inheritance	Likely pathogenic	rs1555218644, rs2138904306, rs1555225498	RCV001785303 RCV001785304 RCV001785305
Cerebellar ataxia	Likely pathogenic	rs1555225835	RCV000851503
Cognitive impairment with or without cerebellar ataxia	Likely pathogenic; Pathogenic	rs1323578421, rs1064793923, rs2138909658, rs2138863024, rs2138750383, rs2138748239, rs587780586, rs1555225782, rs2138942542, rs2138862836, rs2138942373, rs2138739035, rs2540260520, rs794727361, rs2540155977 View all (20 more)	RCV001333926 RCV001706842 RCV001706935 RCV001814683 RCV001843726 RCV002246576 RCV001249685 RCV002052203 RCV002249163 RCV002250338 RCV002250339 RCV003325437 RCV002465390 RCV001095653 RCV002512466 RCV004566611 RCV004767197 RCV005008215 RCV003223477 RCV003315144 RCV003315164 RCV003323268 RCV003333511 RCV003335842 RCV003448535 RCV006257383 RCV004566583 RCV005255040 RCV001330496 RCV000762898 RCV002248807 RCV004594094 RCV000850509 RCV000850511 RCV000995865 RCV001291729
COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA	Pathogenic	rs1057521662, rs1555226823	RCV000766191 RCV000766192
Complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1555218644, rs2138904306, rs1555225498, rs587780586, rs2138748186, rs587777721, rs876657399, rs863223345, rs796053210, rs796053216, rs796053220, rs796053228, rs796053229, rs797045013, rs869312966 View all (13 more)	RCV003992552 RCV003992553 RCV003992554 RCV003992189 RCV006271833 RCV003992195 RCV003992211 RCV003992212 RCV006271600 RCV003992219 RCV003992220 RCV003992221 RCV003992222 RCV003992223 RCV003992235 RCV003992245 RCV003992246 RCV003992247 RCV003992248 RCV006271972 RCV006271631 RCV003992294 RCV003992161 RCV006271636 RCV003992347 RCV003992384 RCV006271653 RCV006271674 RCV004577536 RCV003992171
Developmental and epileptic encephalopathy	Pathogenic; Likely pathogenic	rs1941714399, rs2138735536, rs2138878910, rs2138919307, rs1938721157, rs2138944020, rs1555228303, rs2138909658, rs1555225532, rs2138750473, rs2138904112, rs2138892902, rs2138748239, rs2138904397, rs1592380834 View all (88 more)	RCV001347627 RCV001366369 RCV001367507 RCV001361939 RCV001365057 RCV001378321 RCV001380063 RCV001868400 RCV005095085 RCV002544191 RCV001885125 RCV001988883 RCV001924977 RCV001958005 RCV001922799 RCV002041381 RCV001975799 RCV000803456 RCV001889841 RCV001908604 RCV001997037 RCV002029043 RCV001876329 RCV001999506 RCV002000739 RCV001931240 RCV002037567 RCV002041510 RCV001951025 RCV001945409 RCV002020842 RCV002048274 RCV002029535 RCV001957044 RCV000636307 RCV001380064 RCV001044209 RCV001219444 RCV001220316 RCV002517014 RCV000700845 RCV000462091 RCV005089956 RCV000229600 RCV002517898 RCV001852528 RCV002807295 RCV002810928 RCV002828904 RCV003027071 RCV003057861 RCV001232816 RCV000232244 RCV002518547 RCV001854934 RCV001054624 RCV002519872 RCV001854935 RCV001059522 RCV000704631 RCV003589734 RCV003589885 RCV003589236 RCV003590416 RCV003753364 RCV003754106 RCV003754147 RCV003754291 RCV003754390 RCV003754435 RCV003754552 RCV003754549 RCV003754440 RCV003754740 RCV003754756 RCV003752686 RCV003753672 RCV001230237 RCV001467078 RCV000467078 RCV001856835 RCV001215479 RCV003588637 RCV001865573 RCV000528368 RCV000546734 RCV001860018 RCV000636321 RCV000695035 RCV000690219 RCV000685441 RCV000685228 RCV001240826 RCV000823620 RCV000799054 RCV000814384 RCV000805968 RCV000796212 RCV000796655 RCV001858503 RCV001421222 RCV001051151 RCV001047065 RCV001037482 RCV001041278 RCV002555932 RCV001215170 RCV001202692 RCV001203843 RCV001214167 RCV001229803 RCV001238629 RCV001879868 RCV001301920 RCV001304823
Developmental and epileptic encephalopathy, 1	Likely pathogenic	rs2540307045	RCV002284140
Developmental and epileptic encephalopathy, 13	Likely pathogenic; Pathogenic	rs1555228771, rs1938713472, rs1555228303, rs2138904272, rs2138908345, rs1942832440, rs1064793923, rs2138862858, rs2138904112, rs796053224, rs2138863024, rs2138735599, rs2138863154, rs587780454, rs1592380834 View all (74 more)	RCV001330492 RCV001333731 RCV003330327 RCV001788512 RCV001527646 RCV001706816 RCV001706843 RCV001728035 RCV001775228 RCV001775251 RCV001814683 RCV001822986 RCV001839067 RCV000118285 RCV003987932 RCV003136389 RCV000122729 RCV005622148 RCV000144154 RCV000144155 RCV000144156 RCV002273059 RCV000149436 RCV002466361 RCV002466363 RCV002466364 RCV002468782 RCV000172909 RCV000172910 RCV001253356 RCV002574760 RCV003223395 RCV000500598 RCV000239737 RCV004566612 RCV000239726 RCV000190513 RCV000201939 RCV003322638 RCV000209897 RCV002226427 RCV000239765 RCV000239741 RCV000239739 RCV000239728 RCV000239747 RCV000239751 RCV000239762 RCV000239729 RCV000239758 RCV000239746 RCV000239745 RCV005254751 RCV003323268 RCV003325445 RCV003333512 RCV003988170 RCV003988581 RCV004566584 RCV004595058 RCV000414881 RCV000415327 RCV003335314 RCV000023031 RCV000762898 RCV000496197 RCV000502482 RCV000585876 RCV000988852 RCV003325434 RCV005863291 RCV004799237 RCV000850509 RCV000850511 RCV001775152 RCV000855669 RCV000054506 RCV000988845 RCV000988846 RCV000988851 RCV001004715 RCV001004666 RCV001089542 RCV001089738 RCV001089740 RCV001195919 RCV001249745 RCV001252615 RCV001253419 RCV001262688 RCV001270732
developmental delay with seizures	Pathogenic	rs587777721	RCV000678845
Epilepsy	Likely pathogenic; Pathogenic	rs796053216, rs879255652	RCV000627041 RCV001293365
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs796053216, rs796053228, rs879255709, rs2540309039, rs1057519540, rs1592174304	RCV000416962 RCV000416947 RCV000417005 RCV003484988 RCV000417010 RCV001003603
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1592387849	RCV000855503
Global developmental delay	Likely pathogenic; Pathogenic	rs1555218644, rs2138904306, rs1555225498, rs876657399	RCV001785303 RCV001785304 RCV001785305 RCV001003602
Infantile spasms	Likely pathogenic	rs1592174304	RCV001003603
Intellectual disability	Likely pathogenic; Pathogenic	rs2540154868, rs1555225835, rs1057520149, rs1085307999	RCV005626889 RCV000851503 RCV000851498 RCV000851494
Myoclonus, familial, 2	Pathogenic; Likely pathogenic	rs1592380834, rs1555228912, rs796053229, rs2540265567, rs2540159252, rs1565934070	RCV003987932 RCV004566614 RCV005008215 RCV003333514 RCV004566586 RCV000761580
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2138942837, rs1555218610, rs2540260370, rs2540172722	RCV001374961 RCV002277641 RCV003389157 RCV003389209
SCN8A-related disorder	Likely pathogenic; Pathogenic	rs2138862977, rs2138711868, rs794727128, rs796053217, rs879255704, rs2540302084, rs200307006, rs1555219495, rs1352024223, rs1555231010	RCV006270514 RCV003336489 RCV000509479 RCV004734838 RCV003335289 RCV003314101 RCV004529289 RCV004535562 RCV004545795 RCV000677422
SCN8A-related epileptic disorder	Likely pathogenic	rs1555218630	RCV000677400
See cases	Likely pathogenic; Pathogenic	rs2138942487, rs796053209, rs796053228, rs1938178701	RCV001420313 RCV004584370 RCV002252035 RCV002252328
Seizure	Likely pathogenic; Pathogenic	rs1555218644, rs2138904306, rs1555225498, rs876657399, rs879255652, rs1057520149, rs1085307999, rs1592174304, rs879255709	RCV001785303 RCV001785304 RCV001785305 RCV001003602 RCV005624346 RCV000851498 RCV000851494 RCV001003603 RCV002275183
Seizures, benign familial infantile, 5	Likely pathogenic; Pathogenic	rs2138863024, rs2138863154, rs1592380834, rs587780586, rs2138944124, rs2138711868, rs672601319, rs1555228912, rs796053220, rs796053228, rs797045013, rs879255652, rs796053229, rs2540333608, rs2540265567 View all (8 more)	RCV001814683 RCV001839067 RCV003987932 RCV001249685 RCV005410946 RCV002281585 RCV005867933 RCV004566613 RCV002281571 RCV002281572 RCV000850597 RCV000239671 RCV005008215 RCV003227554 RCV003333513 RCV006449393 RCV004551164 RCV004566585 RCV000762898 RCV002281575 RCV004799237 RCV000850509 RCV000850511
Undetermined early-onset epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2540308991	RCV004799688
West syndrome	Likely pathogenic; Pathogenic	rs587780586	RCV003488395

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal cerebral morphology	Conflicting classifications of pathogenicity	rs886044328	RCV002274970
Acute myeloid leukemia	Benign; -; Conflicting classifications of pathogenicity	rs9943809, rs60928084, rs74091614	RCV005886826 RCV006065178 RCV005909251
Bilateral tonic-clonic seizure	Uncertain significance	rs1410900258	RCV000678846
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs765240974, rs74091614	RCV005901363 RCV005909252
Cholangiocarcinoma	Benign	rs9943809	RCV005886827
Choreoathetosis	Conflicting classifications of pathogenicity	rs1555228665	RCV000626917
Developmental and epileptic encephalopathy, 64	Uncertain significance	rs1436182610	RCV003337858
Developmental disorder	Uncertain significance	rs773069251	RCV003989795
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Benign; Likely benign; Uncertain significance	rs555793953, rs886049584, rs560775301, rs371717199, rs556349961, rs370929972	RCV000359420 RCV000312849 RCV000324762 RCV000319621 RCV000380247 RCV000278663 RCV000359173 RCV000262026 RCV000301573
Febrile seizure (within the age range of 3 months to 6 years)	Conflicting classifications of pathogenicity	rs1555228665	RCV000626917
Focal clonic seizure	Conflicting classifications of pathogenicity	rs1592380699	RCV001090183
Focal epilepsy	Conflicting classifications of pathogenicity	rs587780455	RCV000416967
Gastric cancer	Benign; Likely benign	rs765240974	RCV005901364
Hepatocellular carcinoma	Benign	rs2241855	RCV005902333
Hereditary ataxia	Uncertain significance	rs372096102	RCV005625410
Leukoencephalopathy	Conflicting classifications of pathogenicity	rs1555228665	RCV000626917
Lung cancer	Conflicting classifications of pathogenicity	rs74091614	RCV005909253
Malignant lymphoma, large B-cell, diffuse	Benign	rs2241855	RCV005902334
Malignant tumor of esophagus	Benign	rs752277461	RCV005916606
Moderate intellectual disability	Uncertain significance	rs1555225784	RCV000626916
Myoclonus	Conflicting classifications of pathogenicity	rs1555231128	RCV004798906
Sarcoma	Benign	rs758243136, rs752277461	RCV005916551 RCV005916607
SCN8A-related complex neurodevelopmental disorder	Uncertain significance	rs1555218674, rs1565910864	RCV001563669 RCV001563670
Spastic ataxia	Conflicting classifications of pathogenicity	rs755358223	RCV001644826
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	rs2138868984	RCV001787412
Uterine carcinosarcoma	-; Benign	rs60928084, rs2241855	RCV006065179 RCV005902335
Uterine corpus endometrial carcinoma	-; Benign; Likely benign	rs60928084, rs765240974	RCV006065180 RCV005901365

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcohol Related Disorders	Associate	34979445
Ataxia	Associate	16236810, 29432985
Atrophy	Associate	16236810
Attention Deficit Disorder with Hyperactivity	Associate	16236810
Autism Spectrum Disorder	Associate	27875746, 33460646, 34615535, 36029553
Body Dysmorphic Disorders	Associate	26993267
Brain Diseases	Associate	22365152, 24888894, 25239001, 25568300, 25818041, 27375106, 28518218, 28923014, 29121005, 29432985, 30171078, 31672125, 31715021, 33901312, 35188110, 35802036, 35853415, 37577282 View all (3 more)
CDKL5 deficiency disorder	Associate	30171078
Cerebellar Ataxia	Associate	38233770
Cerebellar Diseases	Associate	16236810
Cognition Disorders	Associate	16236810, 29726066, 31625145, 38233770
Colorectal Neoplasms	Associate	25804238, 31672162
Congenital Hyperinsulinism	Associate	23869231
Developmental Disabilities	Associate	24888894, 25568300, 26993267, 27875746, 27900360, 28923014, 29432985, 31056551, 31402610, 33460646, 34979445, 35803560, 37498161, 38233770
Diastrophic dysplasia	Associate	25785782
Drug Resistant Epilepsy	Associate	28923014
Early Onset Glaucoma	Associate	29390993, 40180227
Encephalitis Viral	Associate	37891420
Epilepsies Partial	Associate	29432985, 32968789
Epilepsy	Associate	22365152, 24888894, 25239001, 25568300, 25725044, 25785782, 26252990, 27875746, 27900360, 28923014, 29056246, 29432985, 29466837, 30185235, 30977854 View all (14 more)
Epilepsy Absence	Associate	28518218
Epilepsy Benign Neonatal	Associate	28923014, 34979445, 35188110, 37577282, 38160512
Epilepsy Generalized	Associate	34431999
Epilepsy Tonic Clonic	Associate	25568300
Epileptic Encephalopathy Early Infantile 3	Associate	24888894, 30171078, 31625145, 34399820, 34979445, 35803560, 36029553, 37498161
Epileptic Syndromes	Associate	35188110, 36357057, 37498161
Episodic Ataxia	Associate	30314295
Episodic Ataxia Type 2	Associate	30314295
Fetal akinesia syndrome X linked	Associate	31680123
Frontotemporal Dementia	Inhibit	32299835
Glioma	Associate	37052249
Heredodegenerative Disorders Nervous System	Associate	23925123
Hypersensitivity Delayed	Associate	29432985, 37498161, 37577282
Infantile Epileptic Dyskinetic Encephalopathy	Associate	28387369, 34979445
Intellectual Disability	Associate	16236810, 24888894, 25568300, 25725044, 25785782, 26252990, 27875746, 28923014, 29726066, 31402610, 35188110
Leukodystrophy Metachromatic	Associate	35803560
Leukoencephalopathies	Associate	35803560
Lymphatic Metastasis	Stimulate	31672162
Migraine Familial Basilar	Associate	33460646
Movement Disorders	Associate	16236810, 25568300, 29432985, 29726066, 31625145, 35188110, 37498161
Multiple Sclerosis	Associate	15148385
Muscle Hypotonia	Associate	25568300, 37498161
Myoclonus	Associate	29726066
Neoplasms	Inhibit	25804238
Neoplasms	Stimulate	30158710
Nerve Degeneration	Associate	15148385
Neurologic Manifestations	Associate	22365152, 29726066
Neuromuscular Diseases	Associate	27875746
Pancreatic Neoplasms	Associate	37198621
Psychomotor Disorders	Associate	28923014
Rett Syndrome	Associate	25914188
Seizures	Associate	24888894, 25568300, 25725044, 26252990, 27375106, 27875746, 27900360, 28923014, 30171078, 30314295, 32613771, 35188110, 35802036, 37577282
Spasm	Associate	25568300
Spinocerebellar Degenerations	Associate	16236810
Sudden Unexpected Death in Epilepsy	Associate	22365152, 25785782, 27375106, 28923014, 32968789
Syndrome	Associate	35803560
Tremor	Associate	18718804
Trigeminal Neuralgia	Associate	29432985
Uterine Cervical Neoplasms	Stimulate	30158710

SCN8A (sodium voltage-gated channel alpha subunit 8)