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_006920.6

p.R1323_V1324Splc

c.3970-4T>G

Surrounding Variants

1 paper

NM_001165963.4

p.R1334_V1335Splc

c.4003-2A>G

8 papers

NM_001165963.4

p.V1335M

c.4003G>A

1 paper

NM_001165963.4

p.V1335fs

c.4003_4004fs

1 paper

NM_001165963.4

p.V1335insFs

c.4004_4005ins5

1 paper

NM_006920.6

p.V1324_V1325insFs

c.3972_3973insT

1 paper

NM_001165963.4

p.V1337M

c.4009G>A

1 paper

NM_001165963.4

p.V1337_N1338insFs

c.4011_4012insTG

1 paper

NM_001165963.4

p.N1338H

c.4012A>C

1 paper

NM_001165963.4

p.N1338T

c.4013A>C

6 papers

NM_001165963.4

p.A1339V

c.4016C>T

2 papers

NM_001165963.4

p.A1339D

c.4016C>A

2 papers

NM_006920.6

p.L1329F

c.3985C>T