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Gene KIT
Variant P551_W557delinsL
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT P551_W557delinsL results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 557, combined with the insertion of a leucine (L) in the same site (PMID: 16226710). P551_W557delinsL 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 P551_W557delinsL

KIT mutant KIT exon11 KIT exon 11 del KIT P551_W557delinsL

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Transcript NM_000222.3
gDNA chr4:g.54727419_54727439delinsCTT
cDNA c.1651_1671delinsCTT
Protein p.P551_W557delinsL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727419_54727439delinsCTT c.1651_1671delinsCTT p.P551_W557delinsL RefSeq GRCh38/hg38
NM_000222 chr4:g.54727419_54727439delinsCTT c.1651_1671delinsCTT p.P551_W557delinsL RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727419_54727439delinsCTT c.1651_1671delinsCTT p.P551_W557delinsL RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727419_54727439delinsCTT c.1651_1671delinsCTT p.P551_W557delinsL RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727419_54727439delinsCTT c.1651_1671delinsCTT p.P551_W557delinsL RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727419_54727439delinsCTT c.1651_1671delinsCTT p.P551_W557delinsL RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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
KIT P551_W557delinsL gastrointestinal stromal tumor predicted - sensitive Ponatinib Case Reports/Case Series Actionable In a clinical study, a GIST patient harboring KIT P551_W557delinsL, resistant to Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib), demonstrated sensitivity to Iclusig (ponatinib) treatment, which resulted in tumor regression and stable disease (PMID: 25239608). 25239608