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

1–12 of 913 variants

152 papers

NM_000334.4

p.T704M

c.2111C>T

114 papers

NM_000334.4

p.M1592V

c.4774A>G

108 papers

NM_000334.4

p.T1313M

c.3938C>T

100 papers

NM_000334.4

p.R1448C

c.4342C>T

88 papers

NM_000334.4

p.G1306E

c.3917G>A

82 papers

NM_000334.4

p.R669H

c.2006G>A

77 papers

NM_000334.4

p.R1448H

c.4343G>A

67 papers

NM_000334.4

p.R672H

c.2015G>A

58 papers

NM_000334.4

p.R672G

c.2014C>G

58 papers

NM_000334.4

p.G1306A

c.3917G>C

56 papers

NM_000334.4

p.A1156T

c.3466G>A

55 papers

NM_000334.4

p.V1589M

c.4765G>A