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.V220D

c.659T>A

Surrounding Variants

1 paper

NM_001165963.4

p.V220A

c.659T>C

1 paper

NM_001165963.4

p.R219_V220delFs

c.657_658delCT

1 paper

NM_001165963.4

p.D208_R219del0

c.622_657del36

1 paper

NM_001165963.4

p.V220V

c.660T>G

1 paper

NM_001165963.4

p.L221F

c.661C>T

2 papers

NM_001165963.4

p.L221V

c.661C>G

1 paper

NM_001165963.4

p.R219S

c.657A>T

1 paper

NM_001165963.4

p.R219S

c.657A>C

4 papers

NM_001165963.4

p.L221P

c.662T>C

2 papers

NM_001165963.4

p.R219T

c.656G>C

1 paper

NM_001165963.4

p.R219K

c.656G>A

1 paper

NM_001165963.4

p.L215_R219del0

c.644_655del12