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.V982_V983Splc

c.2946+2T>A

Surrounding Variants

2 papers

NM_001165963.4

p.V982_V983Splc

c.2946+2T>C

8 papers

NM_001165963.4

p.V982_V983Splc

c.2946+1G>T

2 papers

NM_001165963.4

p.V982A

c.2945T>C

1 paper

NM_001165963.4

p.V982_V983Splc

c.2946+5G>C

2 papers

NM_001165963.4

p.V982_V983Splc

c.2946+5G>A

7 papers

NM_001165963.4

p.V982L

c.2944G>T

7 papers

NM_001165963.4

p.V982L

c.2944G>C

1 paper

NM_001165963.4

p.L981delFs

c.2943delT

1 paper

NM_001165963.4

p.L981P

c.2942T>C

1 paper

NM_001165963.4

p.L981I

c.2941C>A

3 papers

NM_001165963.4

p.G979E

c.2936G>A

11 papers

NM_001165963.4

p.G979R

c.2935G>C