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

56 papers

NM_000334.4

p.A1156T

c.3466G>A

Surrounding Variants

1 paper

NM_000334.4

p.A1156S

c.3466G>T

1 paper

NM_000334.4

p.A1156G

c.3467C>G

1 paper

NM_000334.4

p.I1157N

c.3470T>A

34 papers

NM_000334.4

p.P1158S

c.3472C>T

2 papers

NM_000334.4

p.P1158A

c.3472C>G

5 papers

NM_000334.4

p.P1158L

c.3473C>T

2 papers

NM_000334.4

p.S1159P

c.3475T>C

10 papers

NM_000334.4

p.A1152D

c.3455C>A

32 papers

NM_000334.4

p.I1160V

c.3478A>G

1 paper

NM_000334.4

p.M1161V

c.3481A>G

1 paper

NM_000334.4

p.M1161T

c.3482T>C

4 papers

NM_000334.4

p.V1149L

c.3445G>T