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.C731S

c.2191T>A

Surrounding Variants

1 paper

NM_000334.4

p.C731S

c.2192G>C

2 papers

NM_000334.4

p.V730M

c.2188G>A

1 paper

NM_000334.4

p.C737C

c.2211C>T

2 papers

NM_000334.4

p.K724R

c.2171A>G

2 papers

NM_000334.4

p.G723G

c.2169C>A

1 paper

NM_000334.4

p.M744T

c.2231T>C

1 paper

NM_000334.4

p.V717A

c.2150T>C

1 paper

NM_000334.4

p.V717delFs

c.2149delC

1 paper

NM_000334.4

p.M744I

c.2232G>T

1 paper

NM_000334.4

p.M744I

c.2232G>C

1 paper

NM_000334.4

p.M744I

c.2232G>A

2 papers

NM_000334.4

p.A715S

c.2143G>T