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.A1599D

c.4796C>A

Surrounding Variants

1 paper

NM_006514.4

p.R1594H

c.4781G>A

1 paper

NM_006514.4

p.R1594C

c.4780C>T

1 paper

NM_006514.4

p.I1593fs

c.4777_4778fs

1 paper

NM_006514.4

p.P1605H

c.4814C>A

1 paper

NM_006514.4

p.G1592_I1593insFs

c.4776_4777insGG

1 paper

NM_006514.4

p.I1610V

c.4828A>G

3 papers

NM_006514.4

p.R1588Q

c.4763G>A

3 papers

NM_006514.4

p.L1612P

c.4835T>C

1 paper

NM_006514.4

p.I1583T

c.4748T>C

1 paper

NM_006514.4

p.L1616I

c.4846C>A

2 papers

NM_006514.4

p.R1582H

c.4745G>A

1 paper

NM_006514.4

p.R1582C

c.4744C>T