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.A201Splc

c.602+2T>A

Surrounding Variants

3 papers

NM_001165963.4

p.A201Splc

c.602+1G>T

6 papers

NM_001165963.4

p.A201Splc

c.602+1G>C

39 papers

NM_001165963.4

p.A201Splc

c.602+1G>A

1 paper

NM_001165963.4

p.T199_A201delFs

c.596_602del7

2 papers

NM_001165963.4

p.A201Splc

c.602+3A>C

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

6 papers

NM_001165963.4

p.A201Splc

c.602+5G>A

1 paper

NM_001165963.4

p.I198_T199insFs

c.594_597dup4

1 paper

NM_001165963.4

p.F200L

c.598T>C

1 paper

NM_001165963.4

p.T199fs

c.595_596fs