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

2 papers

NM_000334.4

p.V787A

c.2360T>C

Surrounding Variants

1 paper

NM_000334.4

p.V787D

c.2360T>A

1 paper

NM_000334.4

p.M784insFs

c.2351dupT

1 paper

NM_000334.4

p.V792G

c.2375T>G

1 paper

NM_000334.4

p.V792_V793Splc

c.2376+1G>A

20 papers

NM_000334.4

p.V781I

c.2341G>A

2 papers

NM_000334.4

p.M777delFs

c.2330delA

1 paper

NM_000334.4

p.A776A

c.2328C>A

1 paper

NM_000334.4

p.A776S

c.2326G>T

1 paper

NM_000334.4

p.G774S

c.2320G>A

1 paper

NM_000334.4

p.A773S

c.2317G>T

1 paper

NM_000334.4

p.M766T

c.2297T>C

1 paper

NM_000334.4

p.W762*

c.2286G>A