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.D646N

c.1936G>A

Surrounding Variants

1 paper

NM_000334.4

p.I644T

c.1931T>C

1 paper

NM_000334.4

p.N643K

c.1929T>G

1 paper

NM_000334.4

p.N643K

c.1929T>A

1 paper

NM_000334.4

p.W642C

c.1926G>T

1 paper

NM_000334.4

p.W642C

c.1926G>C

1 paper

NM_000334.4

p.V650V

c.1950C>T

1 paper

NM_000334.4

p.Q640*

c.1918C>T

1 paper

NM_000334.4

p.S653G

c.1957A>G

1 paper

NM_000334.4

p.S653I

c.1958G>T

1 paper

NM_000334.4

p.L657P

c.1970T>C

1 paper

NM_000334.4

p.G658D

c.1973G>A

2 papers

NM_000334.4

p.L629P

c.1886T>C