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.R916L

c.2747G>T

Surrounding Variants

1 paper

NM_001330260.2

p.R916C

c.2746C>T

1 paper

NM_001330260.2

p.K907N

c.2721G>C

1 paper

NM_001330260.2

p.K907N

c.2721G>T

1 paper

NM_001330260.2

p.V929_V932del4

c.2785_2795del12

8 papers

NM_001330260.2

p.V929F

c.2785G>T

1 paper

NM_001330260.2

p.K902K

c.2706A>G

2 papers

NM_001330260.2

p.R931*

c.2791C>T

2 papers

NM_001330260.2

p.R931Q

c.2792G>A

1 paper

NM_001330260.2

p.C934R

c.2800T>C

1 paper

NM_001330260.2

p.G898E

c.2693G>A

1 paper

NM_001330260.2

p.G935delins

c.2803_2804delinsTC

4 papers

NM_001330260.2

p.E936K

c.2806G>A