DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000288135:c.2447A>T
Reference Version: GRCh37
Chromosome: 4
Start: 55599321
Stop: 55599321
Strand: 1
Transcript: ENST00000288135 (ensembl - 74_37)
Gene: KIT ( View drug interactions on DGIdb )

Information

Reference: A
Variant: T ( View in CIViC)
Amino Acid: p.D816V
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.2447
Tags: pathogenic likely pathogenic activating

Disease Data

Disease	Source	Batch	Tags	External Links
acute myeloid leukemia	Ustun et al., 2009, Leuk. Res.	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Gajiwala et al., 2009, Proc. Natl. Acad. Sci. U.S.A.	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Smith et al., 2013, Am Soc Clin Oncol Educ Book	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Johnson et al., 2013, Am. J. Clin. Pathol.	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
acute myeloid leukemia	Smith et al., 2012, Nature	WashU hematologic malignancy mutation list (View variants)	likely pathogenic
gastrointestinal stromal tumor	Gajiwala et al., 2009, Proc. Natl. Acad. Sci. U.S.A.	Literature (View variants)	likely pathogenic
mast-cell leukemia	Gotlib et al., 2005, Blood	Literature (View variants)	likely pathogenic
mast-cell leukemia	Pan et al., 2007, Blood	Literature (View variants)	likely pathogenic
mast-cell leukemia	Gleixner et al., 2007, Haematologica	Literature (View variants)	likely pathogenic
gastrointestinal stromal tumor	Todd et al., 2013, Pigment Cell Melanoma Res	Drug Gene Knowledge Database (View variants)	likely pathogenic
gastrointestinal stromal tumor	Wasag et al., 2011, Exp. Hematol.	Drug Gene Knowledge Database (View variants)	likely pathogenic
gastrointestinal stromal tumor	Nakagomi et al., 2007, Lab. Invest.	Drug Gene Knowledge Database (View variants)	likely pathogenic
mast-cell leukemia	MacConaill et al., 2014, J Mol Diagn	Oncomap Variants (View variants)	likely pathogenic
hematologic cancer	Tornillo et al., 2006, J. Clin. Pathol.	Kin-Driver (View variants)	activating likely pathogenic
acute myeloid leukemia	Cairoli et al., 2006, Blood	CIViC Knowledgebase (View variants)		CIViC

Drug Interaction Data

Therapeutic Context	Pathway	Effect	Association	Status	Evidence	Source
quizartinib	activation	gain-of-function		preclinical	emerging	22504184
dasatinib	activation	gain-of-function		case report	emerging	18986703
imatinib	activation	gain-of-function		preclinical	emerging	23582185, 21689725, 17259998

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