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.I1782L

c.5344A>C

Surrounding Variants

1 paper

NM_001165963.4

p.Y1781delFs

c.5343delG

2 papers

NM_001165963.4

p.I1782S

c.5345T>G

1 paper

NM_001165963.4

p.Y1781fs

c.5341_5342fs

5 papers

NM_001165963.4

p.I1782M

c.5346C>G

4 papers

NM_001165963.4

p.Y1781C

c.5342A>G

2 papers

NM_001165963.4

p.Y1781D

c.5341T>G

5 papers

NM_006920.6

p.Y1770H

c.5308T>C

NM_001165963.4

p.Y1781H

c.5341T>C

3 papers

NM_001165963.4

p.Y1781N

c.5341T>A

29 papers

NM_001165963.4

p.A1783T

c.5347G>A

NM_006920.6

p.A1772T

c.5314G>A

1 paper

NM_001165963.4

p.M1780I

c.5340G>T

1 paper

NM_001165963.4

p.M1780I

c.5340G>C

1 paper

NM_001165963.4

p.M1780I

c.5340G>A