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.D1866fs

c.5596_5597fs

Surrounding Variants

22 papers

NM_001165963.4

p.D1866Y

c.5596G>T

1 paper

NM_001165963.4

p.D1866N

c.5596G>A

1 paper

NM_001353960.2

p.C1835_L1836delFs

c.5503_5506del4

1 paper

NM_001165963.4

p.D1866V

c.5597A>T

1 paper

NM_001165963.4

p.D1866G

c.5597A>G

3 papers

NM_001165963.4

p.D1866delFs

c.5596delC

1 paper

NM_001165963.4

p.D1866fs

c.5596_5597fs

2 papers

NM_001165963.4

p.L1865P

c.5594T>C

1 paper

NM_001165963.4

p.I1867insFs

c.5599_5600insA

3 papers

NM_001165963.4

p.I1867T

c.5600T>C

1 paper

NM_001165963.4

p.C1864delFs

c.5590delA

1 paper

NM_001165963.4

p.I1867delFs

c.5600delA