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.Q1923E

c.5767C>G

Surrounding Variants

3 papers

NM_006920.6

p.Q1912*

c.5734C>T

23 papers

NM_001165963.4

p.Q1923R

c.5768A>G

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.R1924fs

c.5770_5771fs

1 paper

NM_001353955.2

p.R1912C

c.5734C>T

1 paper

NM_001165963.4

p.R1924G

c.5770C>G

3 papers

NM_001165963.4

p.R1924H

c.5771G>A

2 papers

NM_001165963.4

p.R1924delFs

c.5771delC

1 paper

NM_006920.6

p.A1914del1

c.5740_5742delAGC

1 paper

NM_001165963.4

p.Y1926fs

c.5776_5777fs

3 papers

NM_001165963.4

p.Y1926C

c.5777A>G

NM_006920.6

p.Y1915C

c.5744A>G