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

2 papers

NM_001165963.4

p.Q965*

c.2893C>T

Surrounding Variants

1 paper

NM_001165963.4

p.Q965fs

c.2893_2894fs

1 paper

NM_001165963.4

p.A966T

c.2896G>A

2 papers

NM_001165963.4

p.A963A

c.2889T>C

1 paper

NM_001165963.4

p.C968G

c.2902T>G

2 papers

NM_001165963.4

p.C968F

c.2903G>T

2 papers

NM_001165963.4

p.C968*

c.2904C>A

1 paper

NM_001165963.4

p.C959_C968del0

c.2877_2903del27

1 paper

NM_001165963.4

p.W957_M960delFs

c.2869_2878del10

2 papers

NM_001165963.4

p.L969P

c.2906T>C

3 papers

NM_001165963.4

p.M960R

c.2879T>G

5 papers

NM_001165963.4

p.M960V

c.2878A>G

2 papers

NM_001165963.4

p.C959*

c.2877T>A