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.R865Q

c.2594G>A

Surrounding Variants

2 papers

NM_001165963.4

p.L864_R865del1

c.2591_2593delGCA

16 papers

NM_001165963.4

p.R865*

c.2593C>T

13 papers

NM_001165963.4

p.R865G

c.2593C>G

1 paper

NM_001165963.4

p.L864Fs

c.2591delinsTTCFs

1 paper

NM_001165963.4

p.L864delFs

c.2591delA

1 paper

NM_001165963.4

p.L864R

c.2591T>G

1 paper

NM_001165963.4

p.L864fs

c.2590_2591fs

1 paper

NM_001165963.4

p.L864L

c.2590C>T

2 papers

NM_001165963.4

p.L864V

c.2590C>G

1 paper

NM_001165963.4

p.K868delFs

c.2603delT

1 paper

NM_001165963.4

p.K868del1

c.2602_2603delCTT

2 papers

NM_001165963.4

p.L863_L864Splc

c.2590-8T>G