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

4 papers

NM_001330260.2

p.L1630P

c.4889T>C

Surrounding Variants

5 papers

NM_001330260.2

p.R1629H

c.4886G>A

1 paper

NM_001330260.2

p.R1629L

c.4886G>T

2 papers

NM_001330260.2

p.I1631N

c.4892T>A

1 paper

NM_001330260.2

p.I1631T

c.4892T>C

3 papers

NM_001330260.2

p.I1631M

c.4893C>G

2 papers

NM_001330260.2

p.L1628W

c.4883T>G

6 papers

NM_001330260.2

p.G1633V

c.4898G>T

1 paper

NM_001330260.2

p.I1627N

c.4880T>A

1 paper

NM_001330260.2

p.I1627T

c.4880T>C

1 paper

NM_001330260.2

p.A1634V

c.4901C>T

1 paper

NM_001330260.2

p.R1626H

c.4877G>A

1 paper

NM_001330260.2

p.R1626L

c.4877G>T