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

37 papers

NM_001330260.2

p.G1475R

c.4423G>C

Surrounding Variants

37 papers

NM_001330260.2

p.G1475R

c.4423G>A

1 paper

NM_001330260.2

p.G1475E

c.4424G>A

1 paper

NM_001330260.2

p.G1476delFs

c.4426delG

2 papers

NM_001330260.2

p.G1476S

c.4426G>A

3 papers

NM_001330260.2

p.G1476D

c.4427G>A

7 papers

NM_001330260.2

p.I1479V

c.4435A>G

3 papers

NM_001330260.2

p.M1481V

c.4441A>G

1 paper

NM_001330260.2

p.M1481fs

c.4441_4442fs

1 paper

NM_001330260.2

p.M1481K

c.4442T>A

33 papers

NM_001330260.2

p.E1483K

c.4447G>A

NM_001177984.3

p.E1442K

c.4324G>A

1 paper

NM_001330260.2

p.Q1485*

c.4453C>T

8 papers

NM_001330260.2

p.A1491V

c.4472C>T