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

4 papers

NM_001165963.4

p.D936V

c.2807A>T

Surrounding Variants

2 papers

NM_001165963.4

p.D936Y

c.2806G>T

1 paper

NM_001165963.4

p.N935_D936insFs

c.2805_2806insT

1 paper

NM_001165963.4

p.N935S

c.2804A>G

2 papers

NM_001165963.4

p.N935Y

c.2803A>T

9 papers

NM_001165963.4

p.N935H

c.2803A>C

11 papers

NM_001165963.4

p.M934I

c.2802G>T

NM_006920.6

p.M923I

c.2769G>T

11 papers

NM_001165963.4

p.M934I

c.2802G>C

NM_006920.6

p.M923I

c.2769G>C

11 papers

NM_001165963.4

p.M934I

c.2802G>A

NM_006920.6

p.M923I

c.2769G>A

1 paper

NM_001165963.4

p.M934R

c.2801T>G

4 papers

NM_001165963.4

p.H939Y

c.2815C>T

5 papers

NM_001165963.4

p.H939R

c.2816A>G

3 papers

NM_001165963.4

p.H939P

c.2816A>C