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

12 papers

NM_001165963.4

p.C959R

c.2875T>C

Surrounding Variants

3 papers

NM_001165963.4

p.C959S

c.2875T>A

1 paper

NM_001165963.4

p.D958delFs

c.2874delG

3 papers

NM_001165963.4

p.C959S

c.2876G>C

3 papers

NM_001165963.4

p.C959Y

c.2876G>A

2 papers

NM_001165963.4

p.C959*

c.2877T>A

1 paper

NM_001165963.4

p.D958delFs

c.2872delC

1 paper

NM_001165963.4

p.E951_D958delFs

c.2851_2872del22

5 papers

NM_001165963.4

p.M960V

c.2878A>G

3 papers

NM_001165963.4

p.M960R

c.2879T>G

1 paper

NM_001165963.4

p.W957*

c.2871G>A

4 papers

NM_001165963.4

p.W957L

c.2870G>T

2 papers

NM_001165963.4

p.W957*

c.2870G>A

NM_006920.6

p.W946*

c.2837G>A