Varaico: Literature-Extracted Genetic Variants

SCN4A

1,107 papers

RefSeq Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible fo...

Pfam Domains

Ion_transaa 130–458UCSCIon transport protein

Ion_transaa 577–812UCSCIon transport protein

Na_trans_assocaa 816–1026UCSCSodium ion transport-associated

Ion_transaa 1030–1306UCSCIon transport protein

Ion_transaa 1352–1609UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 4

HGNC Previous Symbol

HYKPP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

100 papers

NM_000334.4

p.R1448C

c.4342C>T

Surrounding Variants

2 papers

NM_000334.4

p.R1448G

c.4342C>G

10 papers

NM_000334.4

p.R1448S

c.4342C>A

9 papers

NM_000334.4

p.R1448L

c.4343G>T

37 papers

NM_000334.4

p.R1448P

c.4343G>C

77 papers

NM_000334.4

p.R1448H

c.4343G>A

2 papers

NM_000334.4

p.F1447S

c.4340T>C

9 papers

NM_000334.4

p.R1451C

c.4351C>T

2 papers

NM_000334.4

p.I1437_I1450del14

c.4309_4349del42

13 papers

NM_000334.4

p.R1451L

c.4352G>T

6 papers

NM_000334.4

p.R1451H

c.4352G>A

1 paper

NM_000334.4

p.A1453G

c.4358C>G

34 papers

NM_000334.4

p.V1442E

c.4325T>A