SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name P48735

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)
P48735 IDHP_HUMAN d-2-hydroxyglutaric aciduria 2 p.Arg140Gln
p.Arg140Gly


P48735 IDHP_HUMAN glioma p.Pro158Leu
p.Pro162Ser
p.Arg172Met
p.Arg172Gly
p.Arg172Lys





P48735 IDHP_HUMAN cartilaginous tumors such as enchondroma or chondrosarcoma