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.N11_N12delFs

c.33_34delTG

Surrounding Variants

1 paper

NM_006514.4

p.N12D

c.34A>G

1 paper

NM_006514.4

p.F13insFs

c.38_39insG

1 paper

NM_006514.4

p.R14C

c.40C>T

26 papers

NM_006514.4

p.R14L

c.41G>T

2 papers

NM_006514.4

p.R14H

c.41G>A

1 paper

NM_006514.4

p.T10A

c.28A>G

1 paper

NM_006514.4

p.R15P

c.44G>C

1 paper

NM_006514.4

p.L8H

c.23T>A

1 paper

NM_006514.4

p.S7delFs

c.20delG

1 paper

NM_006514.4

p.T17A

c.49A>G

1 paper

NM_006514.4

p.G6E

c.17G>A

4 papers

NM_006514.4

p.P18L

c.53C>T