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.G908S

c.2722G>A

Surrounding Variants

2 papers

NM_001165963.4

p.G908R

c.2722G>C

1 paper

NM_001165963.4

p.G908D

c.2723G>A

1 paper

NM_001165963.4

p.V907A

c.2720T>C

1 paper

NM_001165963.4

p.V907F

c.2719G>T

5 papers

NM_001165963.4

p.M909K

c.2726T>A

1 paper

NM_001165963.4

p.V906delFs

c.2717delA

1 paper

NM_001165963.4

p.V906_M909delins

c.2717_2727delinsAC

1 paper

NM_001165963.4

p.V906M

c.2716G>A

1 paper

NM_001165963.4

p.Q910*

c.2728C>T

2 papers

NM_001165963.4

p.Q910K

c.2728C>A

1 paper

NM_001165963.4

p.Q910L

c.2729A>T

3 papers

NM_001165963.4

p.Q910R

c.2729A>G