Gene Variant Detail

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Gene KIT
Variant M552_E554del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT M552_E554del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 554 (PMID: 12879016). M552_E554del 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 M552_E554del

KIT mutant KIT exon11 KIT exon 11 del KIT M552_E554del

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Transcript NM_000222.3
gDNA chr4:g.54727422_54727430delATGTATGAA
cDNA c.1654_1662delATGTATGAA
Protein p.M552_E554delMYE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772 chr4:g.54727434_54727442delCAGTGGAAG c.1654_1662delCAGTGGAAG p.Q552_K554delQWK RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727434_54727442delCAGTGGAAG c.1654_1662delCAGTGGAAG p.Q552_K554delQWK RefSeq GRCh38/hg38
NM_000222 chr4:g.54727422_54727430delATGTATGAA c.1654_1662delATGTATGAA p.M552_E554delMYE RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727431_54727439delGTACAGTGG c.1654_1662delGTACAGTGG p.V552_W554delVQW RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727431_54727439delGTACAGTGG c.1654_1662delGTACAGTGG p.V552_W554delVQW RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727422_54727430delATGTATGAA c.1654_1662delATGTATGAA p.M552_E554delMYE RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727422_54727430delATGTATGAA c.1654_1662delATGTATGAA p.M552_E554delMYE RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727434_54727442delCAGTGGAAG c.1654_1662delCAGTGGAAG p.Q552_K554delQWK RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727431_54727439delGTACAGTGG c.1654_1662delGTACAGTGG p.V552_W554delVQW RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727419_54727427delCCCATGTAT c.1654_1662delCCCATGTAT p.P552_Y554delPMY RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727419_54727427delCCCATGTAT c.1654_1662delCCCATGTAT p.P552_Y554delPMY RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727431_54727439delGTACAGTGG c.1654_1662delGTACAGTGG p.V552_W554delVQW RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727422_54727430delATGTATGAA c.1654_1662delATGTATGAA p.M552_E554delMYE RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727419_54727427delCCCATGTAT c.1654_1662delCCCATGTAT p.P552_Y554delPMY RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727434_54727442delCAGTGGAAG c.1654_1662delCAGTGGAAG p.Q552_K554delQWK RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727434_54727442delCAGTGGAAG c.1654_1662delCAGTGGAAG p.Q552_K554delQWK RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727419_54727427delCCCATGTAT c.1654_1662delCCCATGTAT p.P552_Y554delPMY RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727422_54727430delATGTATGAA c.1654_1662delATGTATGAA p.M552_E554delMYE RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727419_54727427delCCCATGTAT c.1654_1662delCCCATGTAT p.P552_Y554delPMY RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727434_54727442delCAGTGGAAG c.1654_1662delCAGTGGAAG p.Q552_K554delQWK RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727431_54727439delGTACAGTGG c.1654_1662delGTACAGTGG p.V552_W554delVQW RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727419_54727427delCCCATGTAT c.1654_1662delCCCATGTAT p.P552_Y554delPMY RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727422_54727430delATGTATGAA c.1654_1662delATGTATGAA p.M552_E554delMYE RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727431_54727439delGTACAGTGG c.1654_1662delGTACAGTGG p.V552_W554delVQW RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References