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

4 papers

NM_001165963.4

p.C277R

c.829T>C

Surrounding Variants

3 papers

NM_001165963.4

p.C277G

c.829T>G

1 paper

NM_001165963.4

p.C277*

c.831T>A

1 paper

NM_001165963.4

p.K276I

c.827A>T

1 paper

NM_001165963.4

p.I278V

c.832A>G

2 papers

NM_001165963.4

p.K276Q

c.826A>C

1 paper

NM_001165963.4

p.N275_K276insFs

c.825_826ins5

3 papers

NM_001165963.4

p.N275K

c.825T>G

3 papers

NM_001165963.4

p.N275K

c.825T>A

1 paper

NM_001165963.4

p.I278K

c.833T>A

1 paper

NM_001165963.4

p.R274_C277del4

c.820_830del12

3 papers

NM_001165963.4

p.N275S

c.824A>G

2 papers

NM_001165963.4

p.Q279*

c.835C>T