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.L929F

c.2785C>T

Surrounding Variants

1 paper

NM_001165963.4

p.L929delFs

c.2785delG

5 papers

NM_006920.6

p.Q917*

c.2749C>T

NM_001165963.4

p.Q928*

c.2782C>T

1 paper

NM_001165963.4

p.P930_R931insTG

c.2788_2792ins6

1 paper

NM_001165963.4

p.L929del1

c.2785_2786delGAG

3 papers

NM_001165963.4

p.C927F

c.2780G>T

18 papers

NM_001165963.4

p.R931C

c.2791C>T

2 papers

NM_001165963.4

p.R931S

c.2791C>A

1 paper

NM_001165963.4

p.R931L

c.2792G>T

3 papers

NM_001165963.4

p.R931P

c.2792G>C

19 papers

NM_001165963.4

p.R931H

c.2792G>A

1 paper

NM_001165963.4

p.P930_R931delFs

c.2788_2791del4

3 papers

NM_006920.6

p.W921R

c.2761T>C

NM_001165963.4

p.W932R

c.2794T>C