DoCM - Database of Curated Mutations

Sorry, the DoCM website requires Javascript to function properly.

You may be interested in using the API for programatic access.

Variant Data

Location

HGVS: ENST00000330062:c.419G>A
Reference Version: GRCh37
Chromosome: 15
Start: 90631934
Stop: 90631934
Strand: -1
Transcript: ENST00000330062 (ensembl - 74_37)
Gene: IDH2 ( View drug interactions on DGIdb )

Information

Reference: C
Variant: T
Amino Acid: p.R140Q
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.419
Tags: pathogenic likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
acute myeloid leukemia	Zou et al., 2010, Biochem. Biophys. Res. Commun.	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Döhner et al., 2011, Hematology Am Soc Hematol Educ Program	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Chotirat et al., 2012, J Hematol Oncol	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Shang et al., 2013, Zhongguo Shi Yan Xue Ye Xue Za Zhi	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Ashraf et al., 2013, Ann. Hematol.	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Ahmad et al., 2014, Asian Pac. J. Cancer Prev.	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Wang et al., 2013, Science	WashU hematologic malignancy mutation list (View variants)	likely pathogenic
acute myeloid leukemia	MacConaill et al., 2014, J Mol Diagn	WashU hematologic malignancy mutation list (View variants)	likely pathogenic
acute myeloid leukemia	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
multiple myeloma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
myelodysplastic syndrome	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
head and neck squamous cell carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
colorectal cancer	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic

Drug Interaction Data

Therapeutic Context	Pathway	Effect	Association	Status	Evidence	Source
IDH inhibitor	activation	switch-of-function		early trials	emerging	AACR 2014; abstr CT103

Produced by The McDonnell Genome Institute at the Washington University School of Medicine

DoCM by The McDonnell Genome Institute at Washington University School of Medicine is licensed under a Creative Commons Attribution 4.0 International License. Questions? Comments? Concerns? You can contact us here.