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.D1615E

c.4845T>A

Surrounding Variants

1 paper

NM_000334.4

p.D1615E

c.4845T>G

1 paper

NM_000334.4

p.E1607del1

c.4819_4820delCTC

2 papers

NM_000334.4

p.T1623T

c.4869A>G

1 paper

NM_000334.4

p.E1606G

c.4817A>G

1 paper

NM_000334.4

p.F1627V

c.4879T>G

2 papers

NM_000334.4

p.P1629L

c.4886C>T

2 papers

NM_000334.4

p.A1631T

c.4891G>A

1 paper

NM_000334.4

p.N1600T

c.4799A>C

1 paper

NM_000334.4

p.E1599D

c.4797G>T

1 paper

NM_000334.4

p.E1599D

c.4797G>C

1 paper

NM_000334.4

p.T1632S

c.4894A>T

8 papers

NM_000334.4

p.Q1633E

c.4897C>G