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.R1639_L1640del2

c.4915_4919del6

Surrounding Variants

1 paper

NM_001165963.4

p.A1641S

c.4921G>T

2 papers

NM_006920.6

p.A1630T

c.4888G>A

NM_001165963.4

p.A1641T

c.4921G>A

1 paper

NM_001165963.4

p.L1640F

c.4918C>T

1 paper

NM_001165963.4

p.L1640_A1641insA

c.4918_4922ins3

4 papers

NM_001165963.4

p.R1642M

c.4925G>T

6 papers

NM_001165963.4

p.R1642S

c.4926G>T

2 papers

NM_001165963.4

p.R1639L

c.4916G>T

6 papers

NM_001165963.4

p.R1642S

c.4926G>C

2 papers

NM_001165963.4

p.R1639P

c.4916G>C

1 paper

NM_001165963.4

p.R1639delFs

c.4915delG

1 paper

NM_001165963.4

p.R1639C

c.4915C>T

3 papers

NM_001165963.4

p.R1639G

c.4915C>G