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.Y1188*

c.3564C>G

Surrounding Variants

1 paper

NM_000334.4

p.Y1188*

c.3564C>A

2 papers

NM_000334.4

p.Y1188H

c.3562T>C

1 paper

NM_000334.4

p.Y1187H

c.3559T>C

8 papers

NM_000334.4

p.N1180I

c.3539A>T

1 paper

NM_000334.4

p.N1180S

c.3539A>G

1 paper

NM_000334.4

p.G1178V

c.3533G>T

1 paper

NM_000334.4

p.I1200M

c.3600C>G

1 paper

NM_000334.4

p.E1202K

c.3604G>A

1 paper

NM_000334.4

p.F1174S

c.3521T>C

1 paper

NM_000334.4

p.N1204D

c.3610A>G

4 papers

NM_000334.4

p.N1205K

c.3615C>G

4 papers

NM_000334.4

p.N1205K

c.3615C>A