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

42 papers

NM_000334.4

p.V445M

c.1333G>A

Surrounding Variants

6 papers

NM_000334.4

p.V445L

c.1333G>T

6 papers

NM_000334.4

p.V445L

c.1333G>C

1 paper

NM_000334.4

p.L443P

c.1328T>C

14 papers

NM_000334.4

p.N440K

c.1320T>G

14 papers

NM_000334.4

p.N440K

c.1320T>A

1 paper

NM_000334.4

p.A449G

c.1346C>G

15 papers

NM_000334.4

p.L438H

c.1313T>A

7 papers

NM_000334.4

p.E452K

c.1354G>A

1 paper

NM_000334.4

p.Y437C

c.1310A>G

1 paper

NM_000334.4

p.F436C

c.1307T>G

1 paper

NM_000334.4

p.S435C

c.1304C>G

1 paper

NM_000334.4

p.G434C

c.1300G>T