| Type | Description |
|---|---|
| Definition | sodium voltage-gated channel alpha subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-20 13:34:00 | [Analysis of SCN1A gene variants among patients with Dravet syndrome]. | 33565071 |
| 2021-01-23 12:59:00 | Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? | 32538476 |
| 2021-01-16 15:53:00 | Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation. | 31786370 |
| 2021-01-09 13:26:00 | Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy. | 32185219 |
| 2020-12-26 13:12:00 | A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients. | 32581296 |
| Type | IDs |
|---|---|
| Synonymous | EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI |
| Gene |
UniProtKB-ID:
SCN1A_HUMAN
UniprotKB:
P35498
UniParc:
UPI000003C71D,
UPI000002A662,
UPI0000F046A2
EMBL:
AY043484,
M91803,
S71446,
AB093548,
AB098335,
AB093549,
X65362,
AF225985,
AC010127
Ensembl:
ENSG00000144285
KO:
hsa:6323
|
| Nucleutide sequences |
EMBL-CDS:
AAK95360.1,
AAB31605.1,
BAC21101.1,
AAX81984.1,
BAC45228.1,
CAA46439.1,
BAC21102.1,
AAK00217.1
Ensembl_TRS:
ENST00000635750,
ENST00000303395,
ENST00000375405,
ENST00000637988,
ENST00000409050
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000386312,
ENSP00000364554,
ENSP00000490780,
ENSP00000490799,
ENSP00000303540
RefSeq:
NP_001340879.1,
NP_001340880.1,
NP_008851.3,
NP_001189364.1,
NP_001340886.1,
NP_001340890.1,
NP_001340889.1,
NP_001340878.1,
NP_001340883.1,
NP_001340884.1,
NP_001340877.1,
NP_001340881.1,
NP_001340887.1,
NP_001159435.1,
NP_001159436.1
|
| Others |
UniRef100:
UniRef100_P35498
UniRef90:
UniRef90_P35498
UniRef50:
UniRef50_P35498
UniGene:
Hs.22654
CCDS:
CCDS54413.1,
CCDS33316.1,
CCDS54414.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员