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.L215V

c.643T>G

Surrounding Variants

1 paper

NM_001165963.4

p.L215S

c.644T>C

1 paper

NM_001165963.4

p.A214P

c.640G>C

1 paper

NM_001165963.4

p.R216*

c.646A>T

1 paper

NM_001165963.4

p.S213L

c.638C>T

2 papers

NM_001165963.4

p.S213W

c.638C>G

1 paper

NM_001165963.4

p.S213insFs

c.638_639insA

1 paper

NM_001165963.4

p.T217insFs

c.649_650insC

1 paper

NM_001165963.4

p.T217I

c.650C>T

4 papers

NM_001165963.4

p.T217R

c.650C>G

5 papers

NM_001165963.4

p.T217K

c.650C>A

2 papers

NM_001165963.4

p.V212G

c.635T>G

4 papers

NM_001165963.4

p.V212A

c.635T>C