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.G236Splc

c.706+5G>T

Surrounding Variants

1 paper

NM_001330260.2

p.G236Splc

c.706+5G>A

1 paper

NM_001330260.2

p.I234T

c.701T>C

1 paper

NM_001330260.2

p.I234L

c.700A>C

3 papers

NM_001330260.2

p.V233I

c.697G>A

NM_014191.4

p.G236Splc

c.706+238G>A

1 paper

NM_001330260.2

p.V233L

c.697G>C

1 paper

NM_001330260.2

p.V233L

c.697G>T

3 papers

NM_001330260.2

p.S232P

c.694T>C

3 papers

NM_001330260.2

p.I231T

c.692T>C

1 paper

NM_001330260.2

p.T230S

c.689C>G

1 paper

NM_001330260.2

p.T230S

c.688A>T

1 paper

NM_001330260.2

p.K229_T230del2

c.685_689del6

1 paper

NM_001330260.2

p.L228L

c.682T>C