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.G1464R

c.4390G>C

Surrounding Variants

1 paper

NM_000334.4

p.G1464R

c.4390G>A

3 papers

NM_000334.4

p.R1463H

c.4388G>A

4 papers

NM_000334.4

p.R1463S

c.4387C>A

2 papers

NM_000334.4

p.I1462M

c.4386C>G

1 paper

NM_000334.4

p.L1461P

c.4382T>C

7 papers

NM_000334.4

p.R1460Q

c.4379G>A

7 papers

NM_000334.4

p.R1460W

c.4378C>T

1 paper

NM_000334.4

p.V1458D

c.4373T>A

9 papers

NM_000334.4

p.V1458F

c.4372G>T

17 papers

NM_000334.4

p.R1457H

c.4370G>A

1 paper

NM_000334.4

p.G1456G

c.4368G>A

19 papers

NM_000334.4

p.G1456E

c.4367G>A