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.K1317E

c.3949A>G

Surrounding Variants

1 paper

NM_000334.4

p.K1317Q

c.3949A>C

1 paper

NM_000334.4

p.K1317R

c.3950A>G

1 paper

NM_000334.4

p.K1318E

c.3952A>G

1 paper

NM_000334.4

p.K1318Q

c.3952A>C

1 paper

NM_000334.4

p.K1318R

c.3953A>G

1 paper

NM_000334.4

p.E1315Q

c.3943G>C

1 paper

NM_000334.4

p.E1315K

c.3943G>A

1 paper

NM_000334.4

p.E1314Q

c.3940G>C

1 paper

NM_000334.4

p.E1314K

c.3940G>A

108 papers

NM_000334.4

p.T1313M

c.3938C>T

1 paper

NM_000334.4

p.T1313K

c.3938C>A

16 papers

NM_000334.4

p.T1313A

c.3937A>G