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.N1897K

c.5691T>G

Surrounding Variants

2 papers

NM_001165963.4

p.S1899F

c.5696C>T

1 paper

NM_001165963.4

p.M1894T

c.5681T>C

1 paper

NM_001165963.4

p.V1901I

c.5701G>A

1 paper

NM_001165963.4

p.V1901G

c.5702T>G

22 papers

NM_001165963.4

p.R1892*

c.5674C>T

4 papers

NM_001165963.4

p.Q1904*

c.5710C>T

2 papers

NM_001165963.4

p.E1891*

c.5671G>T

2 papers

NM_001165963.4

p.E1890delFs

c.5668delC

2 papers

NM_001165963.4

p.P1905L

c.5714C>T

2 papers

NM_006920.6

p.M1878R

c.5633T>G

NM_001165963.4

p.M1889R

c.5666T>G

1 paper

NM_001165963.4

p.M1889K

c.5666T>A

1 paper

NM_001165963.4

p.I1906V

c.5716A>G