SWISSVAR

1 protein found in SwissVar (23 variants)

with gene/protein name P19878

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)
P19878 NCF2_HUMAN p.Met79Val
p.Lys181Arg
p.Thr279Met
p.Val297Ala
p.Arg328Lys
p.Gly369Arg
p.His389Gln
p.Arg395Trp

1WM5A (181)




1OEYB (389)
1OEYC (395)
P19878 NCF2_HUMAN granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive p.Asn42Ser
p.Gly44Cys
p.Gly44Arg
p.Arg77Gln
p.Gly78Glu
p.Asp93Glu
p.Arg102Pro
p.Asp108Val
p.Ala128Val
p.Trp137Arg
p.Ala140Asp
p.Gln169Glu
p.Arg184Pro
p.Ala202Val
p.Asn419Ile



1WM5A (77)
1E96B (78)



1E96B (128)





1OEYA (419)