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.V1481del1

c.4441_4442delGAC

Surrounding Variants

5 papers

NM_001165963.4

p.V1481I

c.4441G>A

2 papers

NM_001165963.4

p.I1483fs

c.4447_4448fs

NM_006920.6

p.I1472fs

c.4414_4415fs

1 paper

NM_001165963.4

p.I1483R

c.4448T>G

6 papers

NM_001165963.4

p.G1480V

c.4439G>T

1 paper

NM_001165963.4

p.I1483M

c.4449A>G

2 papers

NM_001165963.4

p.G1480C

c.4438G>T

1 paper

NM_001165963.4

p.I1483insFs

c.4448_4449insTA

1 paper

NM_001165963.4

p.L1477_I1479del3

c.4429_4436del9

2 papers

NM_006920.6

p.I1472delFs

c.4416delT

NM_001165963.4

p.I1483delFs

c.4449delT

1 paper

NM_001165963.4

p.I1483del1

c.4447_4448delTAT

2 papers

NM_001165963.4

p.D1484G

c.4451A>G

2 papers

NM_001165963.4

p.N1485Y

c.4453A>T