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Gene Symbol IDH2
Synonyms D2HGA2 | ICD-M | IDH | IDH-2 | IDHM | IDP | IDPM | mNADP-IDH
Gene Description IDH2, isocitrate dehydrogenase (NADP(+)) 2, is an enzyme that catalyzes the conversion of isocitrate to alpha-ketoglutarate (alpha-KG), and is involved in the tricarboxylic acid cycle (PMID: 28711227, PMID: 28980701). Mutations in IDH2 are associated with aberrant conversion of alpha-KG to 2-HG, which is an oncogenic metabolite, and are recurrent in acute myeloid leukemia and subtypes of glioma (PMID: 27621679, PMID: 19228619, PMID: 23999441).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
3418 15 15q26.1 NM_002168 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A101P missense unknown IDH2 A101P does not lie within any known functional domains of the Idh2 protein (UniProt.org). A101P has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
A347T missense no effect - predicted IDH2 A347T does not lie within any known functional domains of the Idh2 protein (UniProt.org). A347T confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
A370T missense unknown IDH2 A370T does not lie within any known functional domains of the Idh2 protein (UniProt.org). A370T has been identified in sequencing studies (PMID: 32321774), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
A410S missense unknown IDH2 A410S does not lie within any known functional domains of the Idh2 protein (UniProt.org). A410S has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
A416fs frameshift unknown IDH2 A416fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 416 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). A416fs has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024).
A416V missense unknown IDH2 A416V does not lie within any known functional domains of the Idh2 protein (UniProt.org). A416V has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024).
A47V missense unknown IDH2 A47V does not lie within any known functional domains of the Idh2 protein (UniProt.org). A47V has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024).
act mut unknown gain of function IDH2 act mut indicates that this variant results in a gain of function in the Idh2 protein. However, the specific amino acid change has not been identified.
amp none no effect IDH2 amp indicates an increased number of copies of the Idh2 gene. However, the mechanism causing the increase is unspecified.
C402Y missense unknown IDH2 C402Y does not lie within any known functional domains of the Idh2 protein (UniProt.org). C402Y has been identified in sequencing studies (PMID: 28634182), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024).
D76fs frameshift loss of function - predicted IDH2 D76fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 76 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the substrate binding region and sites critical for catalysis (UniProt.org), D76fs is predicted to lead to a loss of Idh2 protein function.
D83V missense unknown IDH2 D83V does not lie within any known functional domains of the Idh2 protein (UniProt.org). D83V has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
del deletion loss of function IDH2 del indicates a deletion of the IDH2 gene.
E208* nonsense loss of function - predicted IDH2 E208* results in a premature truncation of the Idh2 protein at amino acid 208 of 452 (UniProt.org). Due to the loss of sites critical for catalysis (UniProt.org), E208* is predicted to lead to a loss of Idh2 protein function.
E226K missense unknown IDH2 E226K does not lie within any known functional domains of the Idh2 protein (UniProt.org). E226K has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024).
E268D missense unknown IDH2 E268D does not lie within any known functional domains of the Idh2 protein (UniProt.org). E268D has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024).
E343V missense no effect - predicted IDH2 E343V does not lie within any known functional domains of the Idh2 protein (UniProt.org). E343V confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
E345G missense no effect - predicted IDH2 E345G does not lie within any known functional domains of the Idh2 protein (UniProt.org). E345G confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
E68K missense unknown IDH2 E68K does not lie within any known functional domains of the Idh2 protein (UniProt.org). E68K has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
F394I missense loss of function - predicted IDH2 F394I does not lie within any known functional domains of the Idh2 protein (UniProt.org). F394I results in decreased cellular accumulation of Idh2 protein in culture (PMID: 21996744), and therefore, is predicted to lead to a loss of Idh2 protein function.
F394V missense loss of function - predicted IDH2 F394V does not lie within any known functional domains of the Idh2 protein (UniProt.org). F394V results in decreased cellular accumulation of Idh2 protein in culture (PMID: 21996744), and therefore, is predicted to lead to a loss of Idh2 protein function.
G137E missense unknown IDH2 G137E lies within the substrate binding region of the Idh2 protein (UniProt.org). G137E has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024).
G144R missense unknown IDH2 G144R does not lie within any known functional domains of the Idh2 protein (UniProt.org). G144R has been identified in sequencing studies (PMID: 24618614), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jun 2024).
G145fs frameshift loss of function - predicted IDH2 G145fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 145 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of sites critical for catalysis (UniProt.org), G145fs is predicted to lead to a loss of Idh2 protein function.
G145R missense unknown IDH2 G145R does not lie within any known functional domains of the Idh2 protein (UniProt.org). G145R has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024).
G171D missense unknown IDH2 G171D does not lie within any known functional domains of the Idh2 protein (UniProt.org). G171D has been identified in sequencing studies (PMID: 21356389, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024).
G190D missense unknown IDH2 G190D does not lie within any known functional domains of the Idh2 protein (UniProt.org). G190D has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
G201D missense unknown IDH2 G201D does not lie within any known functional domains of the Idh2 protein (UniProt.org). G201D has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
G260W missense unknown IDH2 G260W does not lie within any known functional domains of the Idh2 protein (UniProt.org). G260W has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
G421S missense unknown IDH2 G421S does not lie within any known functional domains of the Idh2 protein (UniProt.org). G421S has been identified in the scientific literature (PMID: 31612017), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
G450S missense no effect - predicted IDH2 G450S does not lie within any known functional domains of the Idh2 protein (UniProt.org). G450S does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function.
H348Q missense no effect - predicted IDH2 H348Q does not lie within any known functional domains of the Idh2 protein (UniProt.org). H348Q confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
H358R missense unknown IDH2 H358R does not lie within any known functional domains of the Idh2 protein (UniProt.org). H358R has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
I139F missense unknown IDH2 I139F lies within the substrate binding region of the Idh2 protein (UniProt.org). I139F has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024).
I228L missense unknown IDH2 I228L does not lie within any known functional domains of the Idh2 protein (UniProt.org). I228L has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
I319M missense no effect - predicted IDH2 I319M does not lie within any known functional domains of the Idh2 protein (UniPort.org). I319M confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but retains dimerization ability and does not lead to increased production of 2HG in culture (PMID: 29950729, PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
I441T missense unknown IDH2 I441T does not lie within any known functional domains of the Idh2 protein (UniProt.org). I441T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, May 2024).
inact mut unknown loss of function IDH2 inact mut indicates that this variant results in a loss of function of the Idh2 protein. However, the specific amino acid change has not been identified.
K130del deletion unknown IDH2 K130del results in the deletion of an amino acid of the Idh2 protein at amino acid 130 (UniProt.org). K130del is not associated with induction of tumor formation in mice (PMID: 27478040), but has not been fully biochemically characterized and therefore, its effect on Idh2 protein function is unknown.
K133R missense unknown IDH2 K133R does not lie within any known functional domains of the Idh2 protein (UniProt.org). K133R has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024).
K280N missense unknown IDH2 K280N does not lie within any known functional domains of the Idh2 protein (UniProt.org). K280N has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
K48N missense unknown IDH2 K48N does not lie within any known functional domains of the Idh2 protein (UniProt.org). K48N has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jun 2024).
L143M missense unknown IDH2 L143M does not lie within any known functional domains of the Idh2 protein (UniProt.org). L143M has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
L449V missense no effect - predicted IDH2 L449V does not lie within any known functional domains of the Idh2 protein (UniProt.org). L449V does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function.
M248T missense unknown IDH2 M248T does not lie within any known functional domains of the Idh2 protein (UniProt.org). M248T has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
mutant unknown unknown IDH2 mutant indicates an unspecified mutation in the IDH2 gene.
N136S missense no effect - predicted IDH2 N136S does not lie within any known functional domains of the Idh2 protein (UniProt.org). N136S confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
over exp none no effect IDH2 over exp indicates an over expression of the Idh2 protein. However, the mechanism causing the over expression is unspecified.
P151H missense unknown IDH2 P151H does not lie within any known functional domains of the Idh2 protein (UniProt.org). P151H has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024).
P158L missense unknown IDH2 P158L does not lie within any known functional domains of the Idh2 protein (UniProt.org). P158L has been identified in sequencing studies (PMID: 25495392), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
P158T missense unknown IDH2 P158T does not lie within any known functional domains of the Idh2 protein (UniProt.org). P158T has been identified in sequencing studies (PMID: 21356389), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
P162S missense unknown IDH2 P162S does not lie within any known functional domains of the Idh2 protein (UniProt.org). P162S has been identified in sequencing studies (PMID: 26068201, PMID: 25495392, PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
Q316E missense no effect - predicted IDH2 Q316E does not lie within any known functional domains of the Idh2 protein (UniPort.org). Q316E confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but retains dimerization ability and does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 29950729, PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
Q322K missense unknown IDH2 Q322K does not lie within any known functional domains of the Idh2 protein (UniProt.org). Q322K has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
Q359H missense unknown IDH2 Q359H does not lie within any known functional domains of the Idh2 protein (UniProt.org). Q359H has been identified in sequencing studies (PMID: 30545397), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
R140G missense gain of function - predicted IDH2 R140G lies within the substrate binding region of the Idh2 protein (UniProt.org). R140G has been associated with increased 2-hydroxyglutarate (2-HG) levels in patient samples (PMID: 20847235), and therefore, is predicted to lead to a gain of Idh2 protein function.
R140K missense unknown IDH2 R140K lies within the substrate binding region of the Idh2 protein (UniProt.org). R140K has been identified in sequencing studies (PMID: 27509124), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024).
R140L missense unknown IDH2 R140L lies within the substrate binding region of the Idh2 protein (UniProt.org). R140L has been identified in the scientific literature (PMID: 29448963, PMID: 38980314, PMID: 36064577), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024).
R140M missense unknown IDH2 R140M lies within the substrate binding region of the Idh2 protein (UniProt.org). R140M has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
R140Q missense gain of function IDH2 R140Q lies within the substrate binding region of the Idh2 protein (UniProt.org). R140Q confers a gain of function to Idh2, enabling conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate), results in increased 2HG levels in patient samples, and is transforming in cell culture (PMID: 20171147, PMID: 23558173).
R140S missense unknown IDH2 R140S lies within the substrate binding region of the Idh2 protein (UniProt.org). R140S has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
R140W missense gain of function - predicted IDH2 R140W lies within the substrate binding region of the Idh2 protein (UniProt.org). R140W results in decreased conversion of isocitrate to alpha-ketoglutarate (alpha-KG) by Idh2, and also results in increased conversion of alpha-KG to 2HG (R(-)-2-hydroxyglutarate) in an in vitro assay (PMID: 21647154), and therefore, is predicted to lead to a gain of Idh2 protein function.
R140X missense unknown IDH2 R140X indicates any Idh2 missense mutation that results in the replacement of the arginine (R) at amino acid 140 by a different amino acid. R140 variants are hotspot mutations in Idh2, which may confer a gain of function to the Idh2 protein resulting in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 23071358, PMID: 27621679).
R159H missense unknown IDH2 R159H does not lie within any known functional domains of the Idh2 protein (UniProt.org). R159H results in increased glycolysis and mitochondrial respiration in combination with IDH2 R140Q in patient-derived cells in culture (PMID: 38009542), but has not been individually characterized and therefore, its effect on Idh2 protein function is unknown.
R172G missense gain of function IDH2 R172G lies within the active site of the Idh2 protein (PMID: 19228619). R172G results in decreased Idh2 enzymatic activity as indicated by reduced production of NADPH in culture (PMID: 21326614, PMID: 19228619), and confers a gain of function to Idh2 as indicated by production of 2HG (R(-)-2-hydroxyglutarate), and leads to activation of HIF-1-alpha signaling and nuclear accumulation of beta-catenin in cell culture (PMID: 22309944, PMID: 21326614).
R172K missense gain of function IDH2 R172K lies within the active site of the Idh2 protein (PMID: 19228619). R172K confers a gain of function to Idh2, as indicated by the increased conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 20171147, PMID: 21326614).
R172M missense gain of function IDH2 R172M lies within the active site of the Idh2 protein (PMID: 19228619). R172M confers a gain of function to the Idh2 protein as indicated by increased production of 2HG (R(-)-2-hydroxyglutarate) in cultured cells (PMID: 21326614, PMID: 27577048).
R172S missense gain of function IDH2 R172S lies within the active site of the Idh2 protein (PMID: 19228619). R172S confers a gain of function to the Idh2 protein as demonstrated by accumulation 2HG (R(-)-2-hydroxyglutarate), and leads to increased migration in cultured cells (PMID: 23264629, PMID: 27913435).
R172T missense unknown IDH2 R172T lies within the active site of the Idh2 protein (PMID: 19228619). R172T is associated with increased levels of 2-hydroxyglutarate (2-HG) in patient samples (PMID: 27913435, PMID: 27956631), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024).
R172W missense gain of function - predicted IDH2 R172W lies within the active site of the Idh2 protein (PMID: 19228619). R172W is associated with increased 2-hydroxyglutarate (2-HG) levels in patient samples (PMID: 34829476, PMID: 22180306), and therefore, is predicted to lead to a gain of Idh2 protein function.
R172X missense unknown IDH2 R172X indicates any Idh2 missense mutation that results in the replacement of the arginine (R) at amino acid 172 by a different amino acid. R172 variants are hotspot mutations in Idh2, which may confer a gain of function to Idh2 resulting in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 28711227, PMID: 21326614, PMID: 25495392).
R353fs frameshift unknown IDH2 R353fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 353 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). R353fs has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
R353H missense no effect - predicted IDH2 R353H does not lie within any known functional domains of the Idh2 protein (UniProt.org). R353H confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
R377C missense unknown IDH2 R377C does not lie within any known functional domains of the Idh2 protein (UniProt.org). R377C has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
S301L missense unknown IDH2 S301L does not lie within any known functional domains of the Idh2 protein (UniProt.org). S301L has been identified in sequencing studies (PMID: 29162652), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
T146fs frameshift loss of function - predicted IDH2 T146fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 146 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of sites critical for catalysis (UniProt.org), T146fs is predicted to lead to a loss of Idh2 protein function.
T331M missense unknown IDH2 T331M does not lie within any known functional domains of the Idh2 protein (UniProt.org). T331M has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024).
T352A missense no effect - predicted IDH2 T352A does not lie within any known functional domains of the Idh2 protein (UniProt.org). T352A confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
T435M missense unknown IDH2 T435M does not lie within any known functional domains of the Idh2 protein (UniProt.org). T435M has been identified in sequencing studies (PMID: 34462665, PMID: 29954938, PMID: 28584132), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
V294M missense no effect - predicted IDH2 V294M does not lie within any known functional domains of the Idh2 protein (UniProt.org). V294M demonstrates isocitrate-dependent NAPDH production similar to wild-type Idh2 in in vitro assays and does not result in increased 2HG production (PMID: 21996744), and therefore, is predicted to have no effect on Idh2 protein function.
V305M missense unknown IDH2 V305M does not lie within any known functional domains of the Idh2 protein (UniProt.org). V305M has been identified in the scientific literature (PMID: 34994649), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
V351I missense no effect - predicted IDH2 V351I does not lie within any known functional domains of the Idh2 protein (UniProt.org). V351I confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. Y
W244* nonsense loss of function - predicted IDH2 W244* results in a premature truncation of the Idh2 protein at amino acid 244 of 452 (UniProt.org). Due to the loss of a site critical for catalysis (UniProt.org), W244* is predicted to lead to a loss of Idh2 protein function.
W375* nonsense unknown IDH2 W375* results in a premature truncation of the Idh2 protein at amino acid 375 of 452 (UniProt.org). W375* has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Apr 2024).
wild-type none no effect Wild-type IDH2 indicates that no mutation has been detected within the IDH2 gene.