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.N559I

c.1676A>T

Surrounding Variants

1 paper

NM_006514.4

p.S562F

c.1685C>T

1 paper

NM_006514.4

p.Q556L

c.1667A>T

2 papers

NM_006514.4

p.P555L

c.1664C>T

14 papers

NM_006514.4

p.L554P

c.1661T>C

1 paper

NM_006514.4

p.H564Q

c.1692T>G

1 paper

NM_006514.4

p.H564Q

c.1692T>A

1 paper

NM_006514.4

p.P553P

c.1659T>A

1 paper

NM_006514.4

p.E568K

c.1702G>A

1 paper

NM_006514.4

p.L549H

c.1646T>A

1 paper

NM_006514.4

p.Q570R

c.1709A>G

1 paper

NM_006514.4

p.Q570P

c.1709A>C

1 paper

NM_006514.4

p.P571T

c.1711C>A