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.V260insFs

c.780dupA

Surrounding Variants

1 paper

NM_001165963.4

p.S259_V260delFs

c.777_780del4

1 paper

NM_001165963.4

p.V260I

c.778G>A

1 paper

NM_001165963.4

p.F256_F261delFs

c.767_782del16

1 paper

NM_001165963.4

p.A262V

c.785C>T

9 papers

NM_001165963.4

p.S259R

c.777C>G

9 papers

NM_001165963.4

p.S259R

c.777C>A

39 papers

NM_001165963.4

p.L263V

c.787C>G

9 papers

NM_001165963.4

p.S259R

c.775A>C

4 papers

NM_001165963.4

p.L263Q

c.788T>A

3 papers

NM_001165963.4

p.L263delFs

c.787delG

1 paper

NM_001165963.4

p.L258delFs

c.772_773delAG

1 paper

NM_001165963.4

p.L258P

c.773T>C