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

27 papers

NM_000334.4

p.R675G

c.2023C>G

Surrounding Variants

14 papers

NM_000334.4

p.R675W

c.2023C>T

32 papers

NM_000334.4

p.R675Q

c.2024G>A

1 paper

NM_000334.4

p.L673_L674Splc

c.2020-5G>A

1 paper

NM_000334.4

p.S682L

c.2045C>T

5 papers

NM_000334.4

p.S682W

c.2045C>G

2 papers

NM_000334.4

p.T685M

c.2054C>T

7 papers

NM_000334.4

p.L689F

c.2065C>T

1 paper

NM_000334.4

p.L689V

c.2065C>G

12 papers

NM_000334.4

p.L689I

c.2065C>A

1 paper

NM_000334.4

p.I692F

c.2074A>T

2 papers

NM_000334.4

p.I692T

c.2075T>C

7 papers

NM_000334.4

p.I692M

c.2076C>G