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.M1714K

c.5141T>A

Surrounding Variants

4 papers

NM_001165963.4

p.M1714R

c.5141T>G

1 paper

NM_001165963.4

p.M1714V

c.5140A>G

1 paper

NM_001165963.4

p.S1713T

c.5138G>C

6 papers

NM_001165963.4

p.S1713N

c.5138G>A

3 papers

NM_001165963.4

p.C1716R

c.5146T>C

1 paper

NM_001165963.4

p.N1712K

c.5136C>G

1 paper

NM_001165963.4

p.N1712K

c.5136C>A

2 papers

NM_001165963.4

p.C1716*

c.5148C>A

1 paper

NM_001165963.4

p.L1717R

c.5150T>G

3 papers

NM_001165963.4

p.L1717P

c.5150T>C

1 paper

NM_001165963.4

p.G1711D

c.5132G>A

1 paper

NM_006920.6

p.L1706L

c.5118A>G