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.E1153*

c.3457G>T

Surrounding Variants

2 papers

NM_001165963.4

p.S1152*

c.3455C>G

2 papers

NM_001165963.4

p.S1152*

c.3455C>A

2 papers

NM_001165963.4

p.G1154S

c.3460G>A

4 papers

NM_001165963.4

p.S1151*

c.3452C>G

3 papers

NM_001165963.4

p.S1151*

c.3452C>A

2 papers

NM_001165963.4

p.S1155insFs

c.3463_3464insT

1 paper

NM_001165963.4

p.G1154delFs

c.3462delA

1 paper

NM_001165963.4

p.S1150delFs

c.3448_3449delCT

1 paper

NM_001165963.4

p.V1157_D1158insA

c.3469_3473ins3

1 paper

NM_001165963.4

p.S1149G

c.3445A>G

1 paper

NM_001165963.4

p.V1157E

c.3470T>A

1 paper

NM_001165963.4

p.N1146_E1147delFs

c.3438_3441del4