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.C959_C968del0

c.2877_2903del27

Surrounding Variants

2 papers

NM_001165963.4

p.C968*

c.2904C>A

2 papers

NM_001165963.4

p.C968F

c.2903G>T

1 paper

NM_001165963.4

p.C968G

c.2902T>G

2 papers

NM_001165963.4

p.L969P

c.2906T>C

1 paper

NM_001165963.4

p.T970I

c.2909C>T

1 paper

NM_001165963.4

p.T970insFs

c.2908_2909insA

3 papers

NM_001165963.4

p.V971L

c.2911G>C

3 papers

NM_001165963.4

p.V971I

c.2911G>A

1 paper

NM_001165963.4

p.A966T

c.2896G>A

1 paper

NM_001165963.4

p.Q965fs

c.2893_2894fs

2 papers

NM_001165963.4

p.Q965*

c.2893C>T

3 papers

NM_001165963.4

p.M973V

c.2917A>G