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.R1933*

c.5797C>T

Surrounding Variants

1 paper

NM_001165963.4

p.R1933fs

c.5797_5798fs

3 papers

NM_001165963.4

p.R1933Q

c.5798G>A

1 paper

NM_001165963.4

p.R1933delFs

c.5797delG

1 paper

NM_001165963.4

p.K1932R

c.5795A>G

3 papers

NM_001165963.4

p.T1934I

c.5801C>T

1 paper

NM_006920.6

p.L1920*

c.5759T>G

1 paper

NM_006920.6

p.L1920*

c.5759T>A

1 paper

NM_001165963.4

p.L1930delFs

c.5788delG

1 paper

NM_001353960.2

p.L1901F

c.5701C>T

2 papers

NM_001165963.4

p.K1936E

c.5806A>G

1 paper

NM_001165963.4

p.T1934_V1935del2

c.5800_5804del6

1 paper

NM_001165963.4

p.H1929Y

c.5785C>T