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.R1869G

c.5605C>G

Surrounding Variants

9 papers

NM_006514.4

p.R1869C

c.5605C>T

3 papers

NM_006514.4

p.R1869H

c.5606G>A

6 papers

NM_006514.4

p.R1863Q

c.5588G>A

1 paper

NM_006514.4

p.P1877fs

c.5629_5630fs

4 papers

NM_006514.4

p.A1886V

c.5657C>T

3 papers

NM_006514.4

p.Q1850*

c.5548C>T

1 paper

NM_006514.4

p.L1889F

c.5665C>T

1 paper

NM_006514.4

p.L1889L

c.5667C>T

3 papers

NM_006514.4

p.R1847Q

c.5540G>A

2 papers

NM_006514.4

p.R1847*

c.5539C>T

1 paper

NM_006514.4

p.L1846F

c.5536C>T

1 paper

NM_006514.4

p.L1846I

c.5536C>A