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.A1474D

c.4421C>A

Surrounding Variants

2 papers

NM_000334.4

p.A1474T

c.4420G>A

1 paper

NM_000334.4

p.F1473F

c.4419C>T

1 paper

NM_000334.4

p.F1473L

c.4419C>A

1 paper

NM_000334.4

p.F1473C

c.4418T>G

27 papers

NM_000334.4

p.F1473S

c.4418T>C

2 papers

NM_000334.4

p.M1476T

c.4427T>C

9 papers

NM_000334.4

p.M1476I

c.4428G>T

9 papers

NM_000334.4

p.M1476I

c.4428G>C

9 papers

NM_000334.4

p.M1476I

c.4428G>A

1 paper

NM_000334.4

p.S1478L

c.4433C>T

1 paper

NM_000334.4

p.A1481S

c.4441G>T

9 papers

NM_000334.4

p.A1481D

c.4442C>A