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

1 paper

NM_000334.4

p.R756H

c.2267G>A

Surrounding Variants

2 papers

NM_000334.4

p.R756C

c.2266C>T

1 paper

NM_000334.4

p.V754I

c.2260G>A

1 paper

NM_000334.4

p.C759S

c.2275T>A

1 paper

NM_000334.4

p.I753I

c.2259C>T

1 paper

NM_000334.4

p.C759S

c.2276G>C

2 papers

NM_000334.4

p.C759_G760insFs

c.2277_2278ins4

1 paper

NM_000334.4

p.G760E

c.2279G>A

1 paper

NM_000334.4

p.E761K

c.2281G>A

1 paper

NM_000334.4

p.W762*

c.2285G>A

1 paper

NM_000334.4

p.W762*

c.2286G>A

1 paper

NM_000334.4

p.M766T

c.2297T>C

1 paper

NM_000334.4

p.M744I

c.2232G>T