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.Q27E

c.79C>G

Surrounding Variants

1 paper

NM_006514.4

p.V22V

c.66G>A

1 paper

NM_006514.4

p.K31M

c.92A>T

1 paper

NM_006514.4

p.G33E

c.98G>A

1 paper

NM_006514.4

p.T34I

c.101C>T

2 papers

NM_006514.4

p.E19K

c.55G>A

1 paper

NM_006514.4

p.G33_T34del2

c.97_101del6

4 papers

NM_006514.4

p.P18L

c.53C>T

1 paper

NM_006514.4

p.K36R

c.107A>G

1 paper

NM_006514.4

p.T17A

c.49A>G

1 paper

NM_006514.4

p.A37V

c.110C>T

1 paper

NM_006514.4

p.R38I

c.113G>T

1 paper

NM_006514.4

p.R15P

c.44G>C