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.S1761fs

c.5281_5282fs

Surrounding Variants

1 paper

NM_000334.4

p.S1761S

c.5283C>T

1 paper

NM_000334.4

p.G1762R

c.5284G>C

1 paper

NM_000334.4

p.G1762R

c.5284G>A

1 paper

NM_000334.4

p.D1759D

c.5277C>T

1 paper

NM_000334.4

p.D1759E

c.5277C>G

1 paper

NM_000334.4

p.D1759E

c.5277C>A

1 paper

NM_000334.4

p.D1764_A1765insFs

c.5292_5293insT

1 paper

NM_000334.4

p.R1755H

c.5264G>A

1 paper

NM_000334.4

p.R1745H

c.5234G>A

2 papers

NM_000334.4

p.R1745C

c.5233C>T

1 paper

NM_000334.4

p.T1775_K1778del4

c.5323_5333del12

7 papers

NM_000334.4

p.H1782fs

c.5344_5345fs