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_001293306.2

p.I1706V

c.5116A>G

Surrounding Variants

13 papers

NM_006514.4

p.I1706V

c.5116A>G

1 paper

NM_006514.4

p.I1708del1

c.5122_5124delGAT

1 paper

NM_006514.4

p.S1709F

c.5126C>T

4 papers

NM_006514.4

p.I1712V

c.5134A>G

7 papers

NM_006514.4

p.M1713V

c.5137A>G

2 papers

NM_006514.4

p.N1715T

c.5144A>C

9 papers

NM_006514.4

p.V1697I

c.5089G>A

1 paper

NM_006514.4

p.C1692Y

c.5075G>A

1 paper

NM_006514.4

p.N1724K

c.5172C>G

1 paper

NM_006514.4

p.A1728V

c.5183C>T

7 papers

NM_006514.4

p.P1683S

c.5047C>T

1 paper

NM_006514.4

p.L1682L

c.5044C>T