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.A1919fs

c.5755_5756fs

Surrounding Variants

1 paper

NM_001165963.4

p.S1918delFs

c.5754delA

3 papers

NM_001165963.4

p.S1918F

c.5753C>T

1 paper

NM_001165963.4

p.S1918P

c.5752T>C

1 paper

NM_001165963.4

p.E1915_E1916delFs

c.5744_5748del5

2 papers

NM_001165963.4

p.I1922S

c.5765T>G

4 papers

NM_001353950.2

p.I1911T

c.5732T>C

NM_001165963.4

p.I1922T

c.5765T>C

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.Q1914delFs

c.5741_5742delTT

2 papers

NM_001165963.4

p.Q1914del1

c.5740_5741delTTG

3 papers

NM_006920.6

p.Q1912*

c.5734C>T

1 paper

NM_001165963.4

p.Q1923E

c.5767C>G