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.P980L

c.2939C>T

Surrounding Variants

2 papers

NM_006514.4

p.G979G

c.2937C>T

1 paper

NM_006514.4

p.G979R

c.2935G>C

1 paper

NM_006514.4

p.G979S

c.2935G>A

1 paper

NM_006514.4

p.A989A

c.2967T>C

9 papers

NM_006514.4

p.P991L

c.2972C>T

NM_001293307.2

p.P893L

c.2678C>T

1 paper

NM_006514.4

p.A963_T966del4

c.2887_2897del12

1 paper

NM_006514.4

p.P998S

c.2992C>T

17 papers

NM_006514.4

p.I962V

c.2884A>G

2 papers

NM_006514.4

p.I999L

c.2995A>C

1 paper

NM_006514.4

p.S1004A

c.3010T>G

1 paper

NM_006514.4

p.S954S

c.2862C>T

1 paper

NM_006514.4

p.D1007G

c.3020A>G