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.P1905L

c.5714C>T

Surrounding Variants

1 paper

NM_001165963.4

p.I1906V

c.5716A>G

1 paper

NM_001165963.4

p.I1906insFs

c.5716dupA

1 paper

NM_001165963.4

p.I1906N

c.5717T>A

4 papers

NM_001165963.4

p.Q1904*

c.5710C>T

1 paper

NM_001165963.4

p.T1909A

c.5725A>G

1 paper

NM_001165963.4

p.V1901G

c.5702T>G

16 papers

NM_001165963.4

p.T1909I

c.5726C>T

1 paper

NM_001165963.4

p.V1901I

c.5701G>A

1 paper

NM_001165963.4

p.T1909del1

c.5725_5726delAGT

2 papers

NM_001165963.4

p.S1899F

c.5696C>T

18 papers

NM_001165963.4

p.R1912*

c.5734C>T

NM_001353950.2

p.R1901*

c.5701C>T

1 paper

NM_001165963.4

p.T1909_R1912Fs

c.5727_5734delinsCTTFs