SWISSVAR

1 protein found in SwissVar (20 variants)

with gene/protein name P21912

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)
P21912 SDHB_HUMAN p.Lys40Glu

P21912 SDHB_HUMAN pheochromocytoma p.Ala43Pro
p.Arg46Gly
p.Arg46Gln
p.Gly53Arg
p.Leu65His
p.Leu65Pro
p.Leu87Ser
p.Ser100Phe
p.Cys101Tyr
p.Ile127Asn
p.Cys192Arg
p.Cys196Tyr
p.Arg230Cys
p.Arg242His














P21912 SDHB_HUMAN paragangliomas 4 p.Arg46Gln
p.Pro131Arg
p.His132Pro
p.Pro197Arg
p.Arg242His





P21912 SDHB_HUMAN paraganglioma and gastric stromal sarcoma
P21912 SDHB_HUMAN cowden syndrome 2 p.Ala3Gly
p.Ser163Pro