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.I1637M

c.4911T>G

Surrounding Variants

5 papers

NM_001330260.2

p.R1638C

c.4912C>T

1 paper

NM_001330260.2

p.I1637T

c.4910T>C

4 papers

NM_001330260.2

p.R1638H

c.4913G>A

1 paper

NM_001330260.2

p.G1636E

c.4907G>A

1 paper

NM_001330260.2

p.T1639I

c.4916C>T

1 paper

NM_001330260.2

p.G1636R

c.4906G>A

1 paper

NM_001330260.2

p.G1636R

c.4906G>C

1 paper

NM_001330260.2

p.L1640V

c.4918C>G

1 paper

NM_001330260.2

p.L1641V

c.4921C>G

1 paper

NM_001330260.2

p.A1634V

c.4901C>T

6 papers

NM_001330260.2

p.G1633V

c.4898G>T

2 papers

NM_001330260.2

p.F1642C

c.4925T>G