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.R1253H

c.3758G>A

Surrounding Variants

1 paper

NM_006514.4

p.R1253C

c.3757C>T

1 paper

NM_006514.4

p.L1249_T1251del3

c.3745_3752del9

1 paper

NM_006514.4

p.A1254T

c.3760G>A

1 paper

NM_006514.4

p.R1256W

c.3766C>T

9 papers

NM_006514.4

p.R1250Q

c.3749G>A

1 paper

NM_006514.4

p.R1256Q

c.3767G>A

2 papers

NM_006514.4

p.R1259Q

c.3776G>A

1 paper

NM_006514.4

p.L1261P

c.3782T>C

2 papers

NM_006514.4

p.R1263*

c.3787C>T

1 paper

NM_006514.4

p.M1267R

c.3800T>G

29 papers

NM_006514.4

p.R1268Q

c.3803G>A

1 paper

NM_006514.4

p.R1268_V1269Splc

c.3804+1G>A