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.S1346C

c.4037C>G

Surrounding Variants

2 papers

NM_001165963.4

p.S1346P

c.4036T>C

2 papers

NM_001165963.4

p.I1347F

c.4039A>T

2 papers

NM_001165963.4

p.I1347V

c.4039A>G

1 paper

NM_001165963.4

p.I1347_M1348insAAC

c.4039_4043ins9

5 papers

NM_001165963.4

p.I1347T

c.4040T>C

2 papers

NM_001165963.4

p.I1347N

c.4040T>A

3 papers

NM_001165963.4

p.P1345L

c.4034C>T

14 papers

NM_001165963.4

p.P1345S

c.4033C>T

2 papers

NM_001165963.4

p.I1344M

c.4032T>G

1 paper

NM_001165963.4

p.I1344delFs

c.4030delT

2 papers

NM_001165963.4

p.M1348I

c.4044G>T

2 papers

NM_001165963.4

p.M1348I

c.4044G>C