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.I173_I174insA

c.517_521ins3

Surrounding Variants

2 papers

NM_001165963.4

p.I174V

c.520A>G

2 papers

NM_001165963.4

p.I171R

c.512T>G

4 papers

NM_001165963.4

p.I171K

c.512T>A

4 papers

NM_001165963.4

p.A175T

c.523G>A

6 papers

NM_001165963.4

p.A175V

c.524C>T

2 papers

NM_001165963.4

p.L170R

c.509T>G

1 paper

NM_001165963.4

p.L170P

c.509T>C

1 paper

NM_001165963.4

p.E168_S169del2

c.502_506del6

1 paper

NM_001165963.4

p.S169delFs

c.506delG

4 papers

NM_001165963.4

p.E168insFs

c.504dupA

4 papers

NM_001165963.4

p.S169P

c.505T>C

3 papers

NM_001165963.4

p.G177R

c.529G>C