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.N1487fs

c.4459_4460fs

Surrounding Variants

2 papers

NM_001165963.4

p.F1486del1

c.4456_4457delGAA

2 papers

NM_001165963.4

p.F1486L

c.4458C>G

2 papers

NM_001165963.4

p.F1486L

c.4458C>A

1 paper

NM_001165963.4

p.N1487delFs

c.4459_4460delTT

1 paper

NM_001165963.4

p.F1486V

c.4456T>G

2 papers

NM_001165963.4

p.F1486L

c.4456T>C

1 paper

NM_001165963.4

p.Q1489*

c.4465C>T

41 papers

NM_001165963.4

p.Q1489K

c.4465C>A

2 papers

NM_001165963.4

p.N1485Y

c.4453A>T

3 papers

NM_001165963.4

p.N1485D

c.4453A>G

1 paper

NM_001165963.4

p.I1482_D1484delFs

c.4445_4452del8

1 paper

NM_001165963.4

p.Q1489L

c.4466A>T