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.E48D

c.144A>C

Surrounding Variants

1 paper

NM_006514.4

p.E48D

c.144A>T

1 paper

NM_006514.4

p.E48V

c.143A>T

1 paper

NM_006514.4

p.Q47K

c.139C>A

1 paper

NM_006514.4

p.K50T

c.149A>C

1 paper

NM_006514.4

p.D46E

c.138C>G

1 paper

NM_006514.4

p.D46E

c.138C>A

1 paper

NM_006514.4

p.D46N

c.136G>A

2 papers

NM_006514.4

p.L55P

c.164T>C

1 paper

NM_006514.4

p.H41Y

c.121C>T

3 papers

NM_006514.4

p.K40E

c.118A>G

1 paper

NM_006514.4

p.E39*

c.115G>T

2 papers

NM_006514.4

p.E39K

c.115G>A