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

2 papers

NM_001330260.2

p.I868T

c.2603T>C

Surrounding Variants

2 papers

NM_001330260.2

p.L864V

c.2590C>G

1 paper

NM_001330260.2

p.G873C

c.2617G>T

1 paper

NM_001330260.2

p.N862K

c.2586C>A

1 paper

NM_001330260.2

p.N862K

c.2586C>G

5 papers

NM_001330260.2

p.A874T

c.2620G>A

1 paper

NM_001330260.2

p.N862S

c.2585A>G

8 papers

NM_001330260.2

p.L875Q

c.2624T>A

1 paper

NM_001330260.2

p.L875P

c.2624T>C

1 paper

NM_001330260.2

p.G876S

c.2626G>A

2 papers

NM_001330260.2

p.G876D

c.2627G>A

1 paper

NM_001330260.2

p.N877H

c.2629A>C

1 paper

NM_001330260.2

p.P859S

c.2575C>T