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.F938Fs

c.2813_2814delinsAFs

Surrounding Variants

1 paper

NM_006514.4

p.F938Y

c.2813T>A

3 papers

NM_006514.4

p.P939L

c.2816C>T

1 paper

NM_006514.4

p.Q940L

c.2819A>T

1 paper

NM_006514.4

p.A943S

c.2827G>T

1 paper

NM_006514.4

p.P945L

c.2834C>T

3 papers

NM_006514.4

p.V948L

c.2842G>T

3 papers

NM_006514.4

p.V948L

c.2842G>C

1 paper

NM_006514.4

p.A927P

c.2779G>C

2 papers

NM_006514.4

p.K950K

c.2850A>G

1 paper

NM_006514.4

p.R923H

c.2768G>A

2 papers

NM_006514.4

p.R923C

c.2767C>T

1 paper

NM_006514.4

p.S954S

c.2862C>T