Gene Detail

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Gene Symbol IDH1
Synonyms HEL-216 | HEL-S-26 | IDCD | IDH | IDP | IDPC | PICD
Gene Description IDH1, isocitrate dehydrogenase (NADP(+)) 1, cytosolic, is an enzyme that catalyzes the conversion of isocitrate to alpha-ketoglutarate (alpha-KG), and is involved in the tricarboxylic acid cycle (PMID: 23999441, PMID: 28711227). Mutations in IDH1 are associated with aberrant conversion of alpha-KG to 2-HG, which is an oncogenic metabolite, and are recurrent in acute myeloid leukemia and glioma (PMID: 23999441, PMID: 28711227).

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Molecular Profile Protein Effect Treatment Approaches
IDH1 A134D loss of function
IDH1 A179D unknown
IDH1 act mut gain of function
IDH1 amp no effect
IDH1 D299H unknown
IDH1 D375Y unknown
IDH1 E17K unknown
IDH1 E190K no effect - predicted
IDH1 G123E unknown
IDH1 G123R unknown
IDH1 G221V unknown
IDH1 G289fs loss of function - predicted
IDH1 G70D loss of function - predicted
IDH1 G8S unknown
IDH1 G97D gain of function
IDH1 G97X unknown
IDH1 H133Q no effect - predicted
IDH1 I112V unknown
IDH1 I113V unknown
IDH1 I129_I130insIRC unknown
IDH1 I130M no effect - predicted
IDH1 I380F unknown
IDH1 I5fs loss of function - predicted
IDH1 I99M no effect - predicted
IDH1 K3N unknown
IDH1 K81N unknown
IDH1 L359F unknown
IDH1 M182L unknown
IDH1 M291I unknown
IDH1 mutant unknown
ATRX loss IDH1 mut
IDH1 N116S unknown
IDH1 over exp no effect
IDH1 P33S unknown
IDH1 Q277* loss of function - predicted
IDH1 Q320H unknown
IDH1 R100* loss of function - predicted
IDH1 R100A gain of function - predicted
IDH1 R100Q gain of function - predicted
IDH1 R100X unknown
IDH1 R109K unknown
IDH1 R119Q unknown
IDH1 R119W unknown
IDH1 R132C gain of function IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R132C SRC T341I
IDH1 R132C IDH1 S280F
IDH1 R132G gain of function IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R132H gain of function IDH Inhibitor (Pan) IDH1 Inhibitor IDH1 R132H peptide vaccine PEPIDH1M vaccine
FLT3 D835Y IDH1 R132H
IDH1 R132I unknown IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R132L gain of function IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R132P unknown IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R132S gain of function IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R132V unknown IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R132X unknown IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R222C unknown
IDH1 R314H unknown
IDH1 R338T unknown
IDH1 R49C loss of function - predicted
IDH1 S261L unknown
IDH1 S280F unknown
IDH1 T162A unknown
IDH1 T325M unknown
IDH1 V178I no effect
IDH1 V276M unknown
IDH1 V294M unknown
IDH1 V386L unknown
IDH1 V71I no effect
IDH1 W92R unknown
IDH1 wild-type no effect
BRAF mut IDH1 wild-type
IDH1 wild-type PTPN11 mut
FLT3 D835Y IDH1 wild-type
IDH1 Y139D gain of function
IDH1 Y139X unknown
IDH1 Y183C no effect - predicted
IDH1 Y235C unknown
IDH1 Y285H unknown