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.L1677R

c.5030T>G

Surrounding Variants

1 paper

NM_001165963.4

p.L1677P

c.5030T>C

6 papers

NM_001165963.4

p.L1677F

c.5029C>T

1 paper

NM_006920.6

p.L1668V

c.5002C>G

2 papers

NM_001165963.4

p.L1675R

c.5024T>G

1 paper

NM_001165963.4

p.L1675P

c.5024T>C

1 paper

NM_006920.6

p.L1664H

c.4991T>A

1 paper

NM_001165963.4

p.L1679delFs

c.5035delG

1 paper

NM_006920.6

p.G1663C

c.4987G>T

21 papers

NM_001165963.4

p.G1674R

c.5020G>C

4 papers

NM_001165963.4

p.G1674S

c.5020G>A

1 paper

NM_001165963.4

p.V1680_M1681insFs

c.5040_5041insAA

2 papers

NM_001165963.4

p.V1680delFs

c.5040delG