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Gene KIT
Variant M552_Y553del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT M552_Y553del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 553 (PMID: 16226710). M552_Y553del 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_Y553del

KIT mutant KIT exon11 KIT exon 11 del KIT M552_Y553del

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Transcript NM_000222.3
gDNA chr4:g.54727422_54727427delATGTAT
cDNA c.1654_1659delATGTAT
Protein p.M552_Y553delMY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385288.1 chr4:g.54727431_54727436delGTACAG c.1654_1659delGTACAG p.V552_Q553delVQ RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727431_54727436delGTACAG c.1654_1659delGTACAG p.V552_Q553delVQ RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727422_54727427delATGTAT c.1654_1659delATGTAT p.M552_Y553delMY RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727419_54727424delCCCATG c.1654_1659delCCCATG p.P552_M553delPM RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727419_54727424delCCCATG c.1654_1659delCCCATG p.P552_M553delPM RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727434_54727439delCAGTGG c.1654_1659delCAGTGG p.Q552_W553delQW RefSeq GRCh38/hg38
NM_000222 chr4:g.54727422_54727427delATGTAT c.1654_1659delATGTAT p.M552_Y553del RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727422_54727427delATGTAT c.1654_1659delATGTAT p.M552_Y553del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727434_54727439delCAGTGG c.1654_1659delCAGTGG p.Q552_W553delQW RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727422_54727427delATGTAT c.1654_1659delATGTAT p.M552_Y553del RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727422_54727427delATGTAT c.1654_1659delATGTAT p.M552_Y553delMY RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727422_54727427delATGTAT c.1654_1659delATGTAT p.M552_Y553del 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References