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.K868del1

c.2602_2603delCTT

Surrounding Variants

1 paper

NM_001165963.4

p.L869W

c.2606T>G

1 paper

NM_001165963.4

p.K868delFs

c.2603delT

1 paper

NM_001165963.4

p.A870S

c.2608G>T

3 papers

NM_001165963.4

p.S872Y

c.2615C>A

1 paper

NM_001165963.4

p.A870_S872delFs

c.2608_2614del7

1 paper

NM_001165963.4

p.R865Q

c.2594G>A

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

4 papers

NM_006920.6

p.W862*

c.2585G>A

NM_001165963.4

p.W873*

c.2618G>A

1 paper

NM_001165963.4

p.L864delFs

c.2591delA