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

2 papers

NM_001165963.4

p.C1354fs

c.4060_4061fs

Surrounding Variants

4 papers

NM_001165963.4

p.C1354Y

c.4061G>A

2 papers

NM_001165963.4

p.C1354delFs

c.4062delA

4 papers

NM_001165963.4

p.L1355P

c.4064T>C

1 paper

NM_006920.6

p.I1345T

c.4034T>C

2 papers

NM_001165963.4

p.V1353F

c.4057G>T

25 papers

NM_001165963.4

p.V1353L

c.4057G>C

2 papers

NM_001165963.4

p.V1353I

c.4057G>A

1 paper

NM_001165963.4

p.I1356M

c.4068A>G

1 paper

NM_001165963.4

p.L1352R

c.4055T>G

5 papers

NM_001165963.4

p.L1352P

c.4055T>C

1 paper

NM_001165963.4

p.F1357L

c.4069T>C

1 paper

NM_001165963.4

p.L1352delFs

c.4054delG