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.V1507I

c.4519G>A

Surrounding Variants

1 paper

NM_000334.4

p.M1501T

c.4502T>C

1 paper

NM_000334.4

p.G1512G

c.4536C>A

1 paper

NM_000334.4

p.M1501V

c.4501A>G

3 papers

NM_000334.4

p.I1513I

c.4539C>A

1 paper

NM_000334.4

p.D1514N

c.4540G>A

2 papers

NM_000334.4

p.F1499L

c.4497C>G

2 papers

NM_000334.4

p.F1499L

c.4497C>A

2 papers

NM_000334.4

p.F1499L

c.4495T>C

2 papers

NM_000334.4

p.I1498M

c.4494C>G

1 paper

NM_000334.4

p.D1515D

c.4545T>C

1 paper

NM_000334.4

p.I1498N

c.4493T>A

1 paper

NM_000334.4

p.I1495T

c.4484T>C