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.F1473C

c.4418T>G

Surrounding Variants

4 papers

NM_001165963.4

p.F1473S

c.4418T>C

1 paper

NM_001165963.4

p.F1472L

c.4416C>G

1 paper

NM_001165963.4

p.F1472L

c.4416C>A

1 paper

NM_001165963.4

p.F1473del1

c.4417_4418delGAA

3 papers

NM_001165963.4

p.F1472S

c.4415T>C

1 paper

NM_001165963.4

p.F1472L

c.4414T>C

5 papers

NM_001165963.4

p.L1475S

c.4424T>C

4 papers

NM_001165963.4

p.S1471F

c.4412C>T

1 paper

NM_001165963.4

p.S1471C

c.4412C>G

1 paper

NM_001165963.4

p.G1470del1

c.4408_4410delCCC

1 paper

NM_001165963.4

p.L1475F

c.4425G>T

1 paper

NM_001165963.4

p.L1475F

c.4425G>C