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.K1302Q

c.3904A>C

Surrounding Variants

1 paper

NM_000334.4

p.K1302E

c.3904A>G

3 papers

NM_000334.4

p.Q1301del1

c.3901_3902delCTG

5 papers

NM_000334.4

p.K1302R

c.3905A>G

1 paper

NM_000334.4

p.K1302N

c.3906G>T

1 paper

NM_000334.4

p.K1302N

c.3906G>C

7 papers

NM_000334.4

p.F1298C

c.3893T>G

17 papers

NM_000334.4

p.N1297K

c.3891C>G

18 papers

NM_000334.4

p.N1297K

c.3891C>A

9 papers

NM_000334.4

p.N1297S

c.3890A>G

1 paper

NM_000334.4

p.V1293L

c.3877G>C

41 papers

NM_000334.4

p.V1293I

c.3877G>A

3 papers

NM_000334.4

p.G1292D

c.3875G>A