SWISSVAR
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1 protein found in SwissVar (25 variants)

with gene/protein name Q15858

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q15858 SCN9A_HUMAN primary erythermalgia p.Gln10Arg
p.Phe216Ser
p.Ser241Thr
p.Asn395Lys
p.Glu406Lys
p.Ile859Thr
p.Leu869His
p.Leu869Phe
p.Phe1460Val
p.Ala1643Thr
p.Ala1643Glu











Q15858 SCN9A_HUMAN indifference to pain, congenital, autosomal recessive p.Arg907Gln

Q15858 SCN9A_HUMAN paroxysmal extreme pain disorder p.Arg1007Cys
p.Val1309Asp
p.Val1309Phe
p.Val1310Phe
p.Ile1472Thr
p.Phe1473Val
p.Thr1475Ile
p.Leu1623Pro
p.Met1638Lys
p.Ala1643Glu










Q15858 SCN9A_HUMAN generalized epilepsy with febrile seizures plus 7 p.Asn641Tyr
p.Lys666Arg


Q15858 SCN9A_HUMAN febrile seizures, familial, 3b p.Ile62Val
p.Pro149Gln