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.S1801fs

c.5401_5402fs

Surrounding Variants

1 paper

NM_001165963.4

p.E1802*

c.5404G>T

1 paper

NM_001165963.4

p.S1801fs

c.5401_5402fs

1 paper

NM_001165963.4

p.L1800Q

c.5399T>A

1 paper

NM_001165963.4

p.E1802delFs

c.5404_5405delTC

1 paper

NM_001165963.4

p.S1801_E1802delFs

c.5403_5406del4

1 paper

NM_001165963.4

p.P1799L

c.5396C>T

1 paper

NM_001165963.4

p.D1804G

c.5411A>G

1 paper

NM_001165963.4

p.F1805fs

c.5413_5414fs

1 paper

NM_001165963.4

p.A1797delFs

c.5390delG

1 paper

NM_006920.6

p.E1795*

c.5383G>T

1 paper

NM_001165963.4

p.E1806K

c.5416G>A

2 papers

NM_001165963.4

p.F1805delFs

c.5414_5415delAA