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.Q1914fs

c.5740_5741fs

Surrounding Variants

1 paper

NM_001165963.4

p.Q1914delFs

c.5741_5742delTT

2 papers

NM_001165963.4

p.Q1914del1

c.5740_5741delTTG

1 paper

NM_001165963.4

p.E1915V

c.5744A>T

1 paper

NM_001165963.4

p.E1915G

c.5744A>G

1 paper

NM_001165963.4

p.R1912Q

c.5735G>A

1 paper

NM_001165963.4

p.K1911_R1912delFs

c.5733_5734delGT

18 papers

NM_001165963.4

p.R1912*

c.5734C>T

NM_001353950.2

p.R1901*

c.5701C>T

1 paper

NM_001165963.4

p.T1909_R1912Fs

c.5727_5734delinsCTTFs

1 paper

NM_001165963.4

p.T1909_R1912Fs

c.5727_5734delinsCTTAAAAAGFs

1 paper

NM_001165963.4

p.T1909_R1912Fs

c.5727_5734delinsCFs

1 paper

NM_001165963.4

p.T1909_R1912delins

c.5727_5734delinsCTTAA

1 paper

NM_001165963.4

p.T1909_R1912Fs

c.5727_5734delinsCTTAAAFs