Varaico: Literature-Extracted Genetic Variants

SCN8A

770 papers

RefSeq Summary

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid m...

Pfam Domains

Ion_transaa 131–422UCSCIon transport protein

Na_trans_cytoplaa 546–702UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 752–988UCSCIon transport protein

Na_trans_assocaa 991–1193UCSCSodium ion transport-associated

Ion_transaa 1197–1475UCSCIon transport protein

Ion_transaa 1521–1777UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 8

HGNC Alias Symbols

Nav1.6; NaCh6; PN4; CerIII; CIAT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001330260.2

p.A727A

c.2181C>T

Surrounding Variants

1 paper

NM_001330260.2

p.N728insFs

c.2182dupA

1 paper

NM_001330260.2

p.N728delFs

c.2184delC

1 paper

NM_001330260.2

p.K725R

c.2174A>G

2 papers

NM_001330260.2

p.F730L

c.2188T>C

2 papers

NM_001330260.2

p.F730L

c.2190C>A

2 papers

NM_001330260.2

p.F730L

c.2190C>G

1 paper

NM_001330260.2

p.W733_E734delFs

c.2198_2202del5

1 paper

NM_001330260.2

p.E734fs

c.2200_2201fs

1 paper

NM_001330260.2

p.K718_P720del3

c.2152_2159del9

1 paper

NM_001330260.2

p.Q716H

c.2148G>C

1 paper

NM_001330260.2

p.Q716H

c.2148G>T

1 paper

NM_001330260.2

p.K741_L742delFs

c.2223_2226del4