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.P1792P

c.5376G>A

Surrounding Variants

1 paper

NM_000334.4

p.S1787N

c.5360G>A

1 paper

NM_000334.4

p.E1783K

c.5347G>A

2 papers

NM_000334.4

p.H1782insFs

c.5345dupA

7 papers

NM_000334.4

p.H1782fs

c.5344_5345fs

1 paper

NM_000334.4

p.T1775_K1778del4

c.5323_5333del12

1 paper

NM_000334.4

p.M1808I

c.5424G>T

1 paper

NM_000334.4

p.M1808I

c.5424G>C

1 paper

NM_000334.4

p.M1808I

c.5424G>A

1 paper

NM_000334.4

p.P1809delins

c.5425_5426delinsGG

1 paper

NM_000334.4

p.P1812S

c.5434C>T

1 paper

NM_000334.4

p.D1814N

c.5440G>A

1 paper

NM_000334.4

p.A1820T

c.5458G>A