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.L1302F

c.3904C>T

Surrounding Variants

15 papers

NM_006514.4

p.A1304T

c.3910G>A

2 papers

NM_006514.4

p.G1299A

c.3896G>C

2 papers

NM_006514.4

p.S1296I

c.3887G>T

1 paper

NM_006514.4

p.V1287A

c.3860T>C

6 papers

NM_006514.4

p.V1287I

c.3859G>A

1 paper

NM_006514.4

p.S1319F

c.3956C>T

2 papers

NM_006514.4

p.S1324_I1325insFs

c.3972_3973insT

4 papers

NM_006514.4

p.N1328K

c.3984C>G

4 papers

NM_006514.4

p.N1328K

c.3984C>A

2 papers

NM_006514.4

p.V1270M

c.3808G>A

5 papers

NM_006514.4

p.S1337T

c.4009T>A

1 paper

NM_006514.4

p.S1340T

c.4019G>C