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Gene IDH2
Variant K130del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions 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.
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 K130del

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Transcript NM_002168.4
gDNA chr15:g.90088735_90088737delTTC
cDNA c.389_391delAGA
Protein p.K130delK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.3 chr15:g.90088735_90088737delTTC c.389_391delAGA p.K130del RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90088735_90088737delTTC c.389_391delAGA p.K130delK RefSeq GRCh38/hg38
NM_002168 chr15:g.90088735_90088737delTTC c.389_391delAGA p.K130del RefSeq GRCh38/hg38
NM_001290114.2 chr15:g.90087474_90087476delCCC c.388_390delGGG p.G130delG RefSeq GRCh38/hg38
NM_001289910.1 chr15:g.90088491_90088493delTGT c.388_390delACA p.T130delT RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries