Varaico: Literature-Extracted Genetic Variants

SCN1A

1,842 papers

RefSeq Summary

Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action ...

Pfam Domains

Ion_transaa 127–434UCSCIon transport protein

Na_trans_cytoplaa 555–718UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 767–1003UCSCIon transport protein

Na_trans_assocaa 1006–1213UCSCSodium ion transport-associated

Ion_transaa 1217–1494UCSCIon transport protein

Ion_transaa 1540–1797UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 1

HGNC Previous Symbol

FEB3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001165963.4

p.T1210del1

c.3628_3629delCGT

Surrounding Variants

1 paper

NM_001165963.4

p.C1211Y

c.3632G>A

1 paper

NM_001165963.4

p.C1211*

c.3633T>A

1 paper

NM_001165963.4

p.T1210R

c.3629C>G

4 papers

NM_001165963.4

p.T1210K

c.3629C>A

1 paper

NM_001165963.4

p.T1210P

c.3628A>C

19 papers

NM_001165963.4

p.R1213*

c.3637C>T

1 paper

NM_001165963.4

p.R1209W

c.3625A>T

1 paper

NM_001165963.4

p.R1209_T1210insT

c.3625_3629ins3

2 papers

NM_001165963.4

p.R1213Q

c.3638G>A

2 papers

NM_001165963.4

p.I1214R

c.3641T>G

1 paper

NM_001165963.4

p.I1214T

c.3641T>C

7 papers

NM_001165963.4

p.L1207P

c.3620T>C