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.L629P

c.1886T>C

Surrounding Variants

1 paper

NM_000334.4

p.K628E

c.1882A>G

1 paper

NM_000334.4

p.V626fs

c.1876_1877fs

1 paper

NM_000334.4

p.M625I

c.1875G>T

1 paper

NM_000334.4

p.M625I

c.1875G>C

1 paper

NM_000334.4

p.M625I

c.1875G>A

4 papers

NM_000334.4

p.E624D

c.1872G>T

2 papers

NM_000334.4

p.E624fs

c.1870_1871fs

3 papers

NM_000334.4

p.E624D

c.1872G>C

1 paper

NM_000334.4

p.E624*

c.1870G>T

1 paper

NM_000334.4

p.E624Q

c.1870G>C

1 paper

NM_000334.4

p.E624K

c.1870G>A

1 paper

NM_000334.4

p.F621L

c.1863C>G