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.P1668S

c.5002C>T

Surrounding Variants

9 papers

NM_001165963.4

p.P1668A

c.5002C>G

5 papers

NM_001165963.4

p.P1668R

c.5003C>G

1 paper

NM_001165963.4

p.L1667insFs

c.4999dupC

2 papers

NM_001165963.4

p.L1667P

c.5000T>C

1 paper

NM_001165963.4

p.P1668delFs

c.5003delG

1 paper

NM_001165963.4

p.L1667fs

c.4999_5000fs

1 paper

NM_001165963.4

p.A1669T

c.5005G>A

1 paper

NM_001165963.4

p.L1667F

c.4999C>T

1 paper

NM_006920.6

p.A1658V

c.4973C>T

1 paper

NM_001353950.2

p.A1658G

c.4973C>G

6 papers

NM_001165963.4

p.A1669E

c.5006C>A

3 papers

NM_001165963.4

p.S1666F

c.4997C>T