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.I1491M

c.4473C>G

Surrounding Variants

1 paper

NM_006514.4

p.N1489K

c.4467C>G

2 papers

NM_006514.4

p.E1496*

c.4486G>T

1 paper

NM_006514.4

p.I1486M

c.4458C>G

1 paper

NM_006514.4

p.L1485I

c.4453C>A

1 paper

NM_006514.4

p.D1498delFs

c.4494delA

1 paper

NM_006514.4

p.I1482V

c.4444A>G

1 paper

NM_006514.4

p.T1505M

c.4514C>T

1 paper

NM_006514.4

p.T1505T

c.4515G>A

1 paper

NM_006514.4

p.G1509G

c.4527C>A

1 paper

NM_006514.4

p.V1473M

c.4417G>A

1 paper

NM_006514.4

p.I1511M

c.4533C>G

1 paper

NM_006514.4

p.Q1466R

c.4397A>G