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

3 papers

NM_001165963.4

p.A201Splc

c.603-2A>G

Surrounding Variants

1 paper

NM_001165963.4

p.A201Splc

c.603-2A>T

2 papers

NM_001165963.4

p.A201V

c.602C>T

1 paper

NM_001165963.4

p.A201G

c.602C>G

3 papers

NM_001165963.4

p.A201E

c.602C>A

1 paper

NM_001165963.4

p.A201A

c.603G>T

3 papers

NM_001165963.4

p.Y202D

c.604T>G

1 paper

NM_001165963.4

p.A201delFs

c.603delC

3 papers

NM_001165963.4

p.Y202fs

c.604_605fs

2 papers

NM_001165963.4

p.Y202F

c.605A>T

1 paper

NM_001165963.4

p.Y202C

c.605A>G

1 paper

NM_001165963.4

p.Y202Y

c.606C>T

2 papers

NM_001165963.4

p.Y202*

c.606C>G