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.H933N

c.2797C>A

Surrounding Variants

1 paper

NM_001165963.4

p.W932C

c.2796G>T

1 paper

NM_001165963.4

p.W932C

c.2796G>C

4 papers

NM_001165963.4

p.W932*

c.2796G>A

1 paper

NM_001165963.4

p.H933P

c.2798A>C

3 papers

NM_001165963.4

p.W932*

c.2795G>A

3 papers

NM_006920.6

p.W921R

c.2761T>C

NM_001165963.4

p.W932R

c.2794T>C

4 papers

NM_006920.6

p.W921R

c.2761T>A

NM_001165963.4

p.W932R

c.2794T>A

1 paper

NM_001165963.4

p.M934R

c.2801T>G

11 papers

NM_001165963.4

p.M934I

c.2802G>T

NM_006920.6

p.M923I

c.2769G>T

1 paper

NM_001165963.4

p.R931L

c.2792G>T

11 papers

NM_001165963.4

p.M934I

c.2802G>C

NM_006920.6

p.M923I

c.2769G>C

3 papers

NM_001165963.4

p.R931P

c.2792G>C