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.Q267K

c.799C>A

Surrounding Variants

3 papers

NM_001165963.4

p.Q267*

c.799C>T

1 paper

NM_001165963.4

p.L266V

c.796C>G

1 paper

NM_001165963.4

p.L268P

c.803T>C

2 papers

NM_001165963.4

p.G265E

c.794G>A

1 paper

NM_001165963.4

p.F269L

c.805T>C

6 papers

NM_001165963.4

p.G265W

c.793G>T

2 papers

NM_001165963.4

p.I264fs

c.790_791fs

2 papers

NM_001165963.4

p.I264T

c.791T>C

1 paper

NM_001165963.4

p.F269L

c.807C>G

1 paper

NM_001165963.4

p.F269L

c.807C>A

4 papers

NM_001165963.4

p.M270V

c.808A>G

1 paper

NM_001165963.4

p.I264V

c.790A>G