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

5 papers

NM_001165963.4

p.G1880E

c.5639G>A

Surrounding Variants

1 paper

NM_001165963.4

p.S1879fs

c.5635_5636fs

2 papers

NM_001165963.4

p.E1881*

c.5641G>T

2 papers

NM_001165963.4

p.E1881K

c.5641G>A

1 paper

NM_001165963.4

p.S1879insFs

c.5636_5637insAG

7 papers

NM_001165963.4

p.E1881D

c.5643G>T

7 papers

NM_001165963.4

p.E1881D

c.5643G>C

1 paper

NM_001165963.4

p.G1880_M1882Fs

c.5640_5645delinsCTAGAGTAFs

1 paper

NM_001165963.4

p.G1877V

c.5630G>T

1 paper

NM_001165963.4

p.R1874_L1876delFs

c.5620_5627del8

1 paper

NM_001165963.4

p.L1876P

c.5627T>C

1 paper

NM_001165963.4

p.L1876L

c.5626C>T

1 paper

NM_001165963.4

p.V1875D

c.5624T>A