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.F1705L

c.5115C>A

Surrounding Variants

1 paper

NM_001165963.4

p.F1705S

c.5114T>C

1 paper

NM_001165963.4

p.N1706fs

c.5116_5117fs

1 paper

NM_001165963.4

p.N1706H

c.5116A>C

2 papers

NM_001165963.4

p.F1705L

c.5113T>C

4 papers

NM_001165963.4

p.F1705I

c.5113T>A

1 paper

NM_001165963.4

p.N1706delFs

c.5116_5117delTT

8 papers

NM_001165963.4

p.F1707V

c.5119T>G

1 paper

NM_006920.6

p.F1696S

c.5087T>C

2 papers

NM_001165963.4

p.D1703V

c.5108A>T

1 paper

NM_001165963.4

p.D1703A

c.5108A>C

2 papers

NM_001165963.4

p.D1703Y

c.5107G>T

2 papers

NM_001165963.4

p.D1702E

c.5106T>G