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.I215M

c.645C>G

Surrounding Variants

4 papers

NM_000334.4

p.I215T

c.644T>C

2 papers

NM_000334.4

p.S216L

c.647C>T

1 paper

NM_000334.4

p.N214fs

c.640_641fs

2 papers

NM_000334.4

p.G213D

c.638G>A

1 paper

NM_000334.4

p.L218L

c.652C>T

1 paper

NM_000334.4

p.L212F

c.636G>T

1 paper

NM_000334.4

p.L212F

c.636G>C

1 paper

NM_000334.4

p.R219G

c.655A>G

5 papers

NM_000334.4

p.R219K

c.656G>A

3 papers

NM_000334.4

p.T220A

c.658A>G

1 paper

NM_000334.4

p.D211H

c.631G>C

1 paper

NM_000334.4

p.D211N

c.631G>A