Varaico: Literature-Extracted Genetic Variants

SCN10A

556 papers

RefSeq Summary

The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by int...

Pfam Domains

Ion_transaa 129–408UCSCIon transport protein

Ion_transaa 664–900UCSCIon transport protein

Na_trans_assocaa 904–1147UCSCSodium ion transport-associated

Ion_transaa 1151–1429UCSCIon transport protein

Ion_transaa 1475–1733UCSCIon transport protein

IQ_SCN5A_Caa 1844–1877UCSCSCN5A-like, C-terminal IQ motif

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 10

HGNC Alias Symbols

Nav1.8; hPN3; SNS; PN3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006514.4

p.G203S

c.607G>A

Surrounding Variants

1 paper

NM_006514.4

p.A205T

c.613G>A

2 papers

NM_006514.4

p.A200V

c.599C>T

12 papers

NM_006514.4

p.I206M

c.618A>G

1 paper

NM_006514.4

p.L208I

c.622C>A

2 papers

NM_006514.4

p.R209H

c.626G>A

1 paper

NM_006514.4

p.G210V

c.629G>T

1 paper

NM_006514.4

p.L214M

c.640C>A

1 paper

NM_006514.4

p.R215W

c.643C>T

1 paper

NM_006514.4

p.R215G

c.643C>G

1 paper

NM_006514.4

p.R215Q

c.644G>A

1 paper

NM_006514.4

p.R218G

c.652A>G

1 paper

NM_006514.4

p.A200Splc

c.600-43G>C