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

14 papers

NM_000334.4

p.F1705I

c.5113T>A

Surrounding Variants

4 papers

NM_000334.4

p.E1703del1

c.5107_5108delCTC

1 paper

NM_000334.4

p.E1702Q

c.5104G>C

6 papers

NM_000334.4

p.E1702K

c.5104G>A

1 paper

NM_000334.4

p.N1709S

c.5126A>G

1 paper

NM_000334.4

p.A1707_P1710delins

c.5120_5128delinsTGT

1 paper

NM_000334.4

p.K1698R

c.5093A>G

1 paper

NM_000334.4

p.K1698E

c.5092A>G

1 paper

NM_000334.4

p.D1695D

c.5085C>T

1 paper

NM_000334.4

p.E1693*

c.5077G>T

1 paper

NM_000334.4

p.T1719S

c.5156C>G

2 papers

NM_000334.4

p.C1676F

c.5027G>T

1 paper

NM_000334.4

p.A1737T

c.5209G>A