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.N1476S

c.4427A>G

Surrounding Variants

2 papers

NM_001165963.4

p.N1476K

c.4428C>G

2 papers

NM_001165963.4

p.N1476K

c.4428C>A

1 paper

NM_001165963.4

p.L1475F

c.4425G>T

1 paper

NM_001165963.4

p.L1475F

c.4425G>C

1 paper

NM_001165963.4

p.F1466_N1476del11

c.4396_4427del33

5 papers

NM_001165963.4

p.L1475S

c.4424T>C

1 paper

NM_001165963.4

p.F1473del1

c.4417_4418delGAA

1 paper

NM_001165963.4

p.I1479F

c.4435A>T

1 paper

NM_001165963.4

p.I1479V

c.4435A>G

1 paper

NM_001165963.4

p.F1473C

c.4418T>G

4 papers

NM_001165963.4

p.F1473S

c.4418T>C

2 papers

NM_001165963.4

p.G1480C

c.4438G>T