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.G271S

c.811G>A

Surrounding Variants

1 paper

NM_001165963.4

p.G271C

c.811G>T

2 papers

NM_001165963.4

p.G271R

c.811G>C

1 paper

NM_001165963.4

p.G271V

c.812G>T

4 papers

NM_001165963.4

p.M270V

c.808A>G

1 paper

NM_001165963.4

p.N272H

c.814A>C

1 paper

NM_001165963.4

p.F269L

c.807C>G

1 paper

NM_001165963.4

p.F269L

c.807C>A

1 paper

NM_001165963.4

p.G271_N272delFs

c.813_814delTG

1 paper

NM_001165963.4

p.F269L

c.805T>C

2 papers

NM_001165963.4

p.L273V

c.817C>G

3 papers

NM_001165963.4

p.L273P

c.818T>C

2 papers

NM_001165963.4

p.L273Q

c.818T>A