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.L1846F

c.5536C>T

Surrounding Variants

1 paper

NM_006514.4

p.L1846I

c.5536C>A

2 papers

NM_006514.4

p.R1847*

c.5539C>T

3 papers

NM_006514.4

p.R1847Q

c.5540G>A

1 paper

NM_006514.4

p.A1843T

c.5527G>A

3 papers

NM_006514.4

p.Q1850*

c.5548C>T

6 papers

NM_006514.4

p.R1863Q

c.5588G>A

1 paper

NM_006514.4

p.K1828T

c.5483A>C

1 paper

NM_006514.4

p.E1827del1

c.5479_5480delCTC

1 paper

NM_006514.4

p.E1827K

c.5479G>A

1 paper

NM_006514.4

p.M1825T

c.5474T>C

9 papers

NM_006514.4

p.R1869C

c.5605C>T

2 papers

NM_006514.4

p.R1869G

c.5605C>G