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.S1796R

c.5388T>A

Surrounding Variants

1 paper

NM_001165963.4

p.S1796fs

c.5386_5387fs

1 paper

NM_001165963.4

p.S1796R

c.5388T>G

1 paper

NM_001165963.4

p.A1797S

c.5389G>T

1 paper

NM_001165963.4

p.S1796I

c.5387G>T

1 paper

NM_001165963.4

p.S1796insFs

c.5386dupA

1 paper

NM_001165963.4

p.A1797P

c.5389G>C

1 paper

NM_001165963.4

p.S1796R

c.5386A>C

1 paper

NM_001165963.4

p.A1797delFs

c.5390delG

1 paper

NM_001165963.4

p.E1795G

c.5384A>G

1 paper

NM_001165963.4

p.E1795*

c.5383G>T

1 paper

NM_001165963.4

p.E1795Q

c.5383G>C

5 papers

NM_001165963.4

p.E1795K

c.5383G>A