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Gene KIT
Variant V560_D572del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V560_D572del results in the deletion of 13 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 560 to 572 (PMID: 16226710). V560_D572del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT V560_D572del

KIT mutant KIT exon11 KIT exon 11 del KIT V560_D572del

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Transcript NM_000222.3
gDNA chr4:g.54727446_54727484del39
cDNA c.1678_1716del39
Protein p.V560_D572del13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178.1 chr4:g.54727446_54727484del39 c.1678_1716del39 p.V560_D572del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727458_54727496del39 c.1678_1716del39 p.N560_L572del13 RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727444_54727482del39 c.1679_1717del39 p.V560_I572del13 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727446_54727484del39 c.1678_1716del39 p.V560_D572del RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727455_54727493del39 c.1678_1716del39 p.I560_Q572del13 RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727455_54727493del39 c.1678_1716del39 p.I560_Q572del13 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727446_54727484del39 c.1678_1716del39 p.V560_D572del13 RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727444_54727482del39 c.1679_1717del39 p.V560_I572del13 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727446_54727484del39 c.1678_1716del39 p.V560_D572del13 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727458_54727496del39 c.1678_1716del39 p.N560_L572del13 RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V560_D572del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT V560_D572del, with a progression-free survival of 16.5 months and an overall survival of 57.4 months (PMID: 18294292). 18294292