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.L1679delFs

c.5035delG

Surrounding Variants

1 paper

NM_006920.6

p.L1668V

c.5002C>G

1 paper

NM_001165963.4

p.V1680_M1681insFs

c.5040_5041insAA

2 papers

NM_001165963.4

p.V1680delFs

c.5040delG

1 paper

NM_001165963.4

p.M1681insFs

c.5041_5042insAA

2 papers

NM_001165963.4

p.L1677R

c.5030T>G

1 paper

NM_006920.6

p.M1670R

c.5009T>G

1 paper

NM_001165963.4

p.L1677P

c.5030T>C

6 papers

NM_001165963.4

p.L1677F

c.5029C>T

1 paper

NM_001165963.4

p.F1682ins1

c.5045_5046insGTT

2 papers

NM_001165963.4

p.F1682S

c.5045T>C

2 papers

NM_001165963.4

p.L1675R

c.5024T>G

3 papers

NM_001165963.4

p.I1683T

c.5048T>C