DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000288135:c.2458G>T
Reference Version: GRCh37
Chromosome: 4
Start: 55599332
Stop: 55599332
Strand: 1
Transcript: ENST00000288135 (ensembl - 74_37)
Gene: KIT ( View drug interactions on DGIdb )

Information

Reference: G
Variant: T
Amino Acid: p.D820Y
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.2458
Tags: pathogenic likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
melanoma	Handolias et al., 2010, Pigment Cell Melanoma Res	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
melanoma	Carvajal et al., 2011, JAMA	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome
melanoma	Hodi et al., 2013, J. Clin. Oncol.	My Cancer Genome (View variants)	pathogenic likely pathogenic	My Cancer Genome

Drug Interaction Data

Therapeutic Context	Pathway	Effect	Association	Status	Evidence	Source
imatinib	activation	gain-of-function		case report	emerging	23775962

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