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.L1489H

c.4466T>A

Surrounding Variants

8 papers

NM_000334.4

p.F1490L

c.4468T>C

8 papers

NM_000334.4

p.F1490L

c.4470C>G

8 papers

NM_000334.4

p.F1490L

c.4470C>A

2 papers

NM_000334.4

p.L1491del1

c.4471_4472delCAG

1 paper

NM_000334.4

p.G1486S

c.4456G>A

2 papers

NM_000334.4

p.L1491_V1492del1

c.4473_4475delACC

2 papers

NM_000334.4

p.M1493V

c.4477A>G

1 paper

NM_000334.4

p.I1485T

c.4454T>C

11 papers

NM_000334.4

p.M1493I

c.4479G>T

11 papers

NM_000334.4

p.M1493I

c.4479G>C

11 papers

NM_000334.4

p.M1493I

c.4479G>A

1 paper

NM_000334.4

p.I1485V

c.4453A>G