Entrez Gene ID	11280
Official Gene Symbol	SCN11A (GeneCards)
Full name	sodium voltage-gated channel alpha subunit 11
Location	3p22.2
Other ids	Vega : OTTHUMG00000048246 MIM : 604385 HGNC : HGNC:10583 Ensembl : ENSG00000168356
Other names	NaN, PN5, FEPS3, HSAN7, SNS-2, NAV1.9, SCN12A
Summary	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

Variants

Found 76 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
853	11280	SCN11A	3	38889002	38889002	Human Skin Fibroblasts	HiSeq 2500
4929	11280	SCN11A	3	38922287	38922287	Asymptomatic	HiSeq 2500 HiSeq X Ten
5465	11280	SCN11A	3	39068548	39068548	Asymptomatic	HiSeq 2500 HiSeq X Ten
22822	11280	SCN11A	3	38993521	38993521	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
30924	11280	SCN11A	3	38936215	38936215	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30925	11280	SCN11A	3	38988275	38988275	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30926	11280	SCN11A	3	38892087	38892087	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30927	11280	SCN11A	3	38936421	38936421	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30928	11280	SCN11A	3	38892087	38892087	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30929	11280	SCN11A	3	38945362	38945362	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30930	11280	SCN11A	3	38888584	38888584	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30931	11280	SCN11A	3	38888410	38888410	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30932	11280	SCN11A	3	38962578	38962578	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30933	11280	SCN11A	3	38888965	38888965	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30934	11280	SCN11A	3	38888855	38888855	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30935	11280	SCN11A	3	38936198	38936198	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30936	11280	SCN11A	3	38892065	38892065	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30937	11280	SCN11A	3	38912214	38912214	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30938	11280	SCN11A	3	38936092	38936092	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30939	11280	SCN11A	3	38991674	38991674	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32189	11280	SCN11A	3	38962641	38962641	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32190	11280	SCN11A	3	38936398	38936398	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32191	11280	SCN11A	3	38913110	38913110	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32192	11280	SCN11A	3	38946699	38946699	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32193	11280	SCN11A	3	38951638	38951638	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32194	11280	SCN11A	3	38889217	38889217	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32195	11280	SCN11A	3	38936346	38936346	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32196	11280	SCN11A	3	38945399	38945399	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32197	11280	SCN11A	3	38951638	38951638	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32198	11280	SCN11A	3	38927638	38927638	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32199	11280	SCN11A	3	38961476	38961476	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32200	11280	SCN11A	3	38949561	38949561	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32201	11280	SCN11A	3	38891974	38891974	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32202	11280	SCN11A	3	38888252	38888252	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32203	11280	SCN11A	3	38908857	38908857	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32204	11280	SCN11A	3	38889119	38889119	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32205	11280	SCN11A	3	38936213	38936214	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32206	11280	SCN11A	3	38888583	38888583	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32207	11280	SCN11A	3	38936181	38936181	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32208	11280	SCN11A	3	38968341	38968341	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32209	11280	SCN11A	3	38927673	38927673	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32210	11280	SCN11A	3	38968341	38968341	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32211	11280	SCN11A	3	38938713	38938713	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32212	11280	SCN11A	3	38904689	38904689	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32213	11280	SCN11A	3	38991740	38991740	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32214	11280	SCN11A	3	38924756	38924756	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32215	11280	SCN11A	3	38888526	38888526	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32216	11280	SCN11A	3	38936383	38936383	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32217	11280	SCN11A	3	38950530	38950530	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32218	11280	SCN11A	3	38888281	38888281	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33520	11280	SCN11A	3	38938429	38938429	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33521	11280	SCN11A	3	38913146	38913146	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33522	11280	SCN11A	3	38936099	38936099	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33523	11280	SCN11A	3	38888206	38888206	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33524	11280	SCN11A	3	38888206	38888206	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33525	11280	SCN11A	3	38946804	38946804	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33526	11280	SCN11A	3	38988301	38988301	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33527	11280	SCN11A	3	38988301	38988301	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33528	11280	SCN11A	3	38945513	38945513	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33529	11280	SCN11A	3	38892075	38892075	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33530	11280	SCN11A	3	38991770	38991770	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33531	11280	SCN11A	3	38926821	38926821	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33532	11280	SCN11A	3	38888248	38888248	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33533	11280	SCN11A	3	38889130	38889130	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33534	11280	SCN11A	3	38950591	38950591	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33535	11280	SCN11A	3	38938683	38938683	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33536	11280	SCN11A	3	38949488	38949488	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33537	11280	SCN11A	3	38949488	38949488	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33538	11280	SCN11A	3	38949573	38949573	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34120	11280	SCN11A	3	38949573	38949573	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34121	11280	SCN11A	3	38927672	38927672	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34122	11280	SCN11A	3	38949573	38949573	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34123	11280	SCN11A	3	38938499	38938499	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34124	11280	SCN11A	3	38936340	38936340	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34125	11280	SCN11A	3	38991809	38991809	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34126	11280	SCN11A	3	38913124	38913124	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel

SCN11A (Entrez ID: 11280)

Variants