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.E1901Q

c.5701G>C

Surrounding Variants

1 paper

NM_006514.4

p.N1900S

c.5699A>G

1 paper

NM_006514.4

p.A1899fs

c.5695_5696fs

2 papers

NM_006514.4

p.T1898delFs

c.5694delT

2 papers

NM_006514.4

p.A1899fs

c.5695_5696fs

1 paper

NM_006514.4

p.A1912S

c.5734G>T

1 paper

NM_006514.4

p.L1889L

c.5667C>T

1 paper

NM_006514.4

p.L1889F

c.5665C>T

4 papers

NM_006514.4

p.A1886V

c.5657C>T

1 paper

NM_006514.4

p.P1918L

c.5753C>T

1 paper

NM_006514.4

p.P1877fs

c.5629_5630fs

1 paper

NM_006514.4

p.T1925N

c.5774C>A

1 paper

NM_006514.4

p.V1932F

c.5794G>T