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

2 papers

NM_006514.4

p.T1570T

c.4710G>A

Surrounding Variants

2 papers

NM_006514.4

p.T1570M

c.4709C>T

1 paper

NM_006514.4

p.T1570K

c.4709C>A

1 paper

NM_006514.4

p.I1575T

c.4724T>C

1 paper

NM_006514.4

p.R1576H

c.4727G>A

1 paper

NM_006514.4

p.L1563V

c.4687C>G

2 papers

NM_006514.4

p.R1579*

c.4735C>T

2 papers

NM_006514.4

p.R1579Q

c.4736G>A

1 paper

NM_006514.4

p.R1582C

c.4744C>T

2 papers

NM_006514.4

p.R1582H

c.4745G>A

1 paper

NM_006514.4

p.I1559L

c.4675A>C

1 paper

NM_006514.4

p.I1583T

c.4748T>C

3 papers

NM_006514.4

p.R1588Q

c.4763G>A