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

1–12 of 789 variants

31 papers

NM_006514.4

p.G1662S

c.4984G>A

30 papers

NM_006514.4

p.V1073A

c.3218T>C

29 papers

NM_006514.4

p.R1268Q

c.3803G>A

26 papers

NM_006514.4

p.R14L

c.41G>T

17 papers

NM_006514.4

p.I962V

c.2884A>G

15 papers

NM_006514.4

p.A1304T

c.3910G>A

14 papers

NM_006514.4

p.L554P

c.1661T>C

14 papers

NM_006514.4

p.L1092P

c.3275T>C

14 papers

NM_006514.4

p.C1523Y

c.4568G>A

13 papers

NM_006514.4

p.I1706V

c.5116A>G

12 papers

NM_006514.4

p.I206M

c.618A>G

12 papers

NM_006514.4

p.S509P

c.1525T>C