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_006920.6

p.E1444fs

c.4330_4331fs

NM_001165963.4

p.E1455fs

c.4363_4364fs

Surrounding Variants

1 paper

NM_001165963.4

p.S1456_L1457insG

c.4366_4370ins3

1 paper

NM_001165963.4

p.E1455K

c.4363G>A

2 papers

NM_006920.6

p.E1444_S1445delFs

c.4331_4334del4

NM_001165963.4

p.E1455_S1456delFs

c.4363_4366del4

1 paper

NM_001165963.4

p.L1457R

c.4370T>G

3 papers

NM_001165963.4

p.E1454K

c.4360G>A

2 papers

NM_001165963.4

p.Y1453*

c.4359T>G

2 papers

NM_001165963.4

p.Y1453*

c.4359T>A

1 paper

NM_001165963.4

p.L1457L

c.4371G>C

2 papers

NM_001165963.4

p.Y1458fs

c.4372_4373fs

3 papers

NM_001165963.4

p.Y1453C

c.4358A>G

1 paper

NM_001165963.4

p.Y1453D

c.4357T>G

1 paper

NM_001165963.4

p.Y1453H

c.4357T>C