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.P1451S

c.4351C>T

Surrounding Variants

6 papers

NM_001165963.4

p.P1451T

c.4351C>A

10 papers

NM_001165963.4

p.P1451L

c.4352C>T

NM_006920.6

p.P1440L

c.4319C>T

6 papers

NM_001165963.4

p.Q1450R

c.4349A>G

5 papers

NM_001165963.4

p.Q1450P

c.4349A>C

1 paper

NM_001165963.4

p.Q1450*

c.4348C>T

3 papers

NM_001165963.4

p.Q1450K

c.4348C>A

1 paper

NM_006920.6

p.L1438P

c.4313T>C

1 paper

NM_001165963.4

p.Y1453D

c.4357T>G

1 paper

NM_001165963.4

p.Y1453H

c.4357T>C

1 paper

NM_001165963.4

p.P1451_K1452delFs

c.4352_4356del5

3 papers

NM_001165963.4

p.Y1453C

c.4358A>G

2 papers

NM_001165963.4

p.Y1453*

c.4359T>G