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.E1607K

c.4819G>A

Surrounding Variants

1 paper

NM_001330260.2

p.I1606_T1614del9

c.4816_4841del27

1 paper

NM_001330260.2

p.K1608K

c.4824A>G

4 papers

NM_001330260.2

p.I1605T

c.4814T>C

3 papers

NM_001330260.2

p.I1605R

c.4814T>G

1 paper

NM_001330260.2

p.V1611F

c.4831G>T

1 paper

NM_001330260.2

p.V1611D

c.4832T>A

1 paper

NM_001330260.2

p.L1602P

c.4805T>C

4 papers

NM_001330260.2

p.T1614A

c.4840A>G

1 paper

NM_001330260.2

p.M1600V

c.4798A>G

1 paper

NM_001330260.2

p.R1617G

c.4849C>G

1 paper

NM_001330260.2

p.R1617*

c.4849C>T

59 papers

NM_001330260.2

p.R1617Q

c.4850G>A