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.A285_S286delFs

c.854_857del4

Surrounding Variants

3 papers

NM_001165963.4

p.E288K

c.862G>A

8 papers

NM_001165963.4

p.E289*

c.865G>T

1 paper

NM_001165963.4

p.E289K

c.865G>A

1 paper

NM_001165963.4

p.E289fs

c.865_866fs

5 papers

NM_001165963.4

p.E289V

c.866A>T

1 paper

NM_001165963.4

p.A285fs

c.853_854fs

3 papers

NM_001165963.4

p.A285S

c.853G>T

1 paper

NM_001165963.4

p.H290R

c.869A>G

1 paper

NM_001165963.4

p.N284N

c.852T>C

1 paper

NM_001165963.4

p.I292L

c.874A>T

3 papers

NM_001165963.4

p.P282delFs

c.846delG

1 paper

NM_001165963.4

p.P282fs

c.844_845fs