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_006920.6

p.G1371V

c.4112G>T

NM_001165963.4

p.G1382V

c.4145G>T

Surrounding Variants

1 paper

NM_001165963.4

p.G1382fs

c.4144_4145fs

2 papers

NM_001165963.4

p.G1382R

c.4144G>C

1 paper

NM_001165963.4

p.T1381delFs

c.4143delA

1 paper

NM_001353960.2

p.D1354Y

c.4060G>T

1 paper

NM_001165963.4

p.D1383G

c.4148A>G

1 paper

NM_001165963.4

p.C1376_T1380delFs

c.4126_4139del14

1 paper

NM_001165963.4

p.T1380S

c.4138A>T

2 papers

NM_001165963.4

p.F1385V

c.4153T>G

1 paper

NM_001165963.4

p.T1379S

c.4135A>T

3 papers

NM_001165963.4

p.N1378delFs

c.4133delT

2 papers

NM_001165963.4

p.N1378T

c.4133A>C

1 paper

NM_001165963.4

p.N1378D

c.4132A>G