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

67 papers

NM_000334.4

p.R672H

c.2015G>A

Surrounding Variants

1 paper

NM_000334.4

p.R672L

c.2015G>T

1 paper

NM_000334.4

p.S670_R672delFs

c.2010_2014del5

20 papers

NM_000334.4

p.R672C

c.2014C>T

58 papers

NM_000334.4

p.R672G

c.2014C>G

34 papers

NM_000334.4

p.R672S

c.2014C>A

4 papers

NM_000334.4

p.F671S

c.2012T>C

1 paper

NM_000334.4

p.L673_L674ins1

c.2019_2020insCAG

82 papers

NM_000334.4

p.R669H

c.2006G>A

6 papers

NM_000334.4

p.R669C

c.2005C>T

3 papers

NM_000334.4

p.R669G

c.2005C>G

1 paper

NM_000334.4

p.G658D

c.1973G>A

1 paper

NM_000334.4

p.L657P

c.1970T>C