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

2 papers

NM_006514.4

p.R923C

c.2767C>T

Surrounding Variants

1 paper

NM_006514.4

p.R923H

c.2768G>A

1 paper

NM_006514.4

p.A927P

c.2779G>C

1 paper

NM_006514.4

p.I917V

c.2749A>G

1 paper

NM_006514.4

p.R916P

c.2747G>C

1 paper

NM_006514.4

p.R916Q

c.2747G>A

3 papers

NM_006514.4

p.A913T

c.2737G>A

1 paper

NM_006514.4

p.V912A

c.2735T>C

2 papers

NM_006514.4

p.Q911*

c.2731C>T

2 papers

NM_006514.4

p.N909K

c.2727C>G

1 paper

NM_006514.4

p.N909insFs

c.2726dupA

2 papers

NM_006514.4

p.N909K

c.2727C>A

1 paper

NM_006514.4

p.F938Y

c.2813T>A