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.I761V

c.2281A>G

Surrounding Variants

1 paper

NM_001330260.2

p.T760T

c.2280C>G

1 paper

NM_001330260.2

p.I759T

c.2276T>C

10 papers

NM_001330260.2

p.I763V

c.2287A>G

1 paper

NM_001330260.2

p.L765_E773del9

c.2293_2318del27

30 papers

NM_001330260.2

p.T767I

c.2300C>T

1 paper

NM_001330260.2

p.P753A

c.2257C>G

1 paper

NM_001330260.2

p.D752_F754del3

c.2254_2261del9

1 paper

NM_001330260.2

p.A771V

c.2312C>T

1 paper

NM_001330260.2

p.H775_M777delFs

c.2325_2331del7

1 paper

NM_001330260.2

p.V746V

c.2238G>C

1 paper

NM_001330260.2

p.I745V

c.2233A>G

1 paper

NM_001330260.2

p.L742M

c.2224C>A