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.L458Q

c.1373T>A

Surrounding Variants

1 paper

NM_000334.4

p.L458L

c.1372C>T

1 paper

NM_000334.4

p.A459T

c.1375G>A

1 paper

NM_000334.4

p.E460insFs

c.1378_1379insC

1 paper

NM_000334.4

p.E460K

c.1378G>A

5 papers

NM_000334.4

p.E463_K464insFs

c.1389_1390insT

1 paper

NM_000334.4

p.K464insFs

c.1390_1391insT

7 papers

NM_000334.4

p.E452K

c.1354G>A

1 paper

NM_000334.4

p.A449G

c.1346C>G

1 paper

NM_000334.4

p.Q469L

c.1406A>T

4 papers

NM_000334.4

p.Q470*

c.1408C>T

6 papers

NM_000334.4

p.V445L

c.1333G>T

6 papers

NM_000334.4

p.V445L

c.1333G>C