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.T875R

c.2624C>G

Surrounding Variants

58 papers

NM_001165963.4

p.T875M

c.2624C>T

2 papers

NM_001165963.4

p.T875insFs

c.2624_2625insTT

7 papers

NM_001165963.4

p.T875K

c.2624C>A

1 paper

NM_001165963.4

p.T875fs

c.2623_2624fs

1 paper

NM_001165963.4

p.T875fs

c.2623_2624fs

2 papers

NM_001165963.4

p.L876I

c.2626T>A

2 papers

NM_001165963.4

p.L876F

c.2628A>T

1 paper

NM_001165963.4

p.L876F

c.2628A>C

1 paper

NM_001165963.4

p.W873C

c.2619G>T

1 paper

NM_001165963.4

p.W873C

c.2619G>C

3 papers

NM_001165963.4

p.W873*

c.2619G>A

4 papers

NM_006920.6

p.W862*

c.2585G>A

NM_001165963.4

p.W873*

c.2618G>A