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

3 papers

NM_001165963.4

p.I1770F

c.5308A>T

Surrounding Variants

1 paper

NM_001165963.4

p.I1770V

c.5308A>G

3 papers

NM_001165963.4

p.I1770N

c.5309T>A

1 paper

NM_001165963.4

p.Y1769C

c.5306A>G

1 paper

NM_001165963.4

p.Y1769H

c.5305T>C

4 papers

NM_001165963.4

p.I1771F

c.5311A>T

1 paper

NM_001165963.4

p.I1771L

c.5311A>C

2 papers

NM_001165963.4

p.S1768R

c.5304T>G

2 papers

NM_001165963.4

p.I1771N

c.5312T>A

2 papers

NM_001165963.4

p.S1768R

c.5304T>A

2 papers

NM_001165963.4

p.S1768R

c.5302A>C

1 paper

NM_001165963.4

p.I1772delins

c.5314_5315delinsAA

1 paper

NM_001165963.4

p.I1772M

c.5316A>G