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.P1551Q

c.4652C>A

Surrounding Variants

1 paper

NM_000334.4

p.P1551L

c.4652C>T

2 papers

NM_000334.4

p.P1550S

c.4648C>T

1 paper

NM_000334.4

p.S1548S

c.4644C>T

1 paper

NM_000334.4

p.P1555S

c.4663C>T

1 paper

NM_000334.4

p.I1545M

c.4635C>G

1 paper

NM_000334.4

p.I1545V

c.4633A>G

1 paper

NM_000334.4

p.P1560S

c.4678C>T

2 papers

NM_000334.4

p.P1560L

c.4679C>T

1 paper

NM_000334.4

p.G1540V

c.4619G>T

1 paper

NM_000334.4

p.D1539N

c.4615G>A

2 papers

NM_000334.4

p.V1564I

c.4690G>A

1 paper

NM_000334.4

p.W1538R

c.4612T>C