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

3 papers

NM_001165963.4

p.L273P

c.818T>C

Surrounding Variants

2 papers

NM_001165963.4

p.L273Q

c.818T>A

2 papers

NM_001165963.4

p.L273V

c.817C>G

1 paper

NM_001165963.4

p.R274K

c.821G>A

1 paper

NM_001165963.4

p.G271_N272delFs

c.813_814delTG

1 paper

NM_001165963.4

p.R274S

c.822G>T

1 paper

NM_001165963.4

p.R274S

c.822G>C

1 paper

NM_001165963.4

p.N272H

c.814A>C

2 papers

NM_001165963.4

p.N275D

c.823A>G

1 paper

NM_001165963.4

p.G271V

c.812G>T

3 papers

NM_001165963.4

p.N275S

c.824A>G

1 paper

NM_001165963.4

p.N275_K276insFs

c.825_826ins5

3 papers

NM_001165963.4

p.N275K

c.825T>G