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.Q1489delFs

c.4467delC

Surrounding Variants

1 paper

NM_001353950.2

p.K1479*

c.4435A>T

16 papers

NM_001165963.4

p.Q1489H

c.4467G>T

17 papers

NM_001165963.4

p.Q1489H

c.4467G>C

1 paper

NM_001165963.4

p.Q1489L

c.4466A>T

2 papers

NM_001165963.4

p.K1491fs

c.4471_4472fs

1 paper

NM_001165963.4

p.Q1489*

c.4465C>T

41 papers

NM_001165963.4

p.Q1489K

c.4465C>A

3 papers

NM_001353955.2

p.K1479*

c.4435A>T

NM_001165963.4

p.K1491*

c.4471A>T

1 paper

NM_001165963.4

p.F1486_K1490del5

c.4456_4469del15

1 paper

NM_001165963.4

p.K1491insFs

c.4472_4473insA

1 paper

NM_001165963.4

p.K1492*

c.4474A>T

1 paper

NM_001165963.4

p.N1487delFs

c.4459_4460delTT