KIT P551_V555del
Gene Variant Detail

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Gene KIT
Variant P551_V555del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT P551_V555del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 555 (PMID: 9438854). P551_V555del confers a gain of function on Kit, as indicated by constitutive Kit phosphorylation, and is transforming in cell culture (PMID: 9438854).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT P551_V555del

KIT mutant KIT exon11 KIT exon 11 del KIT P551_V555del

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Transcript NM_000222.3
gDNA chr4:g.54727420_54727434del15
cDNA c.1652_1666del15
Protein p.P551_V555delPMYEV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385284.1 chr4:g.54727416_54727430del15 c.1651_1665del15 p.K551_E555delKPMYE RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727420_54727434del15 c.1652_1666del15 p.P551_V555del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727433_54727447del15 c.1653_1667del15 p.Q552_V556delQWKVV RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727429_54727443del15 c.1652_1666del15 p.E551_K555delEVQWK RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727433_54727447del15 c.1653_1667del15 p.Q552_V556delQWKVV RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727420_54727434del15 c.1652_1666del15 p.P551_V555delPMYEV RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727420_54727434del15 c.1652_1666del15 p.P551_V555delPMYEV RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727420_54727434del15 c.1652_1666del15 p.P551_V555del RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727420_54727434del15 c.1652_1666del15 p.P551_V555del RefSeq GRCh38/hg38
NM_000222 chr4:g.54727420_54727434del15 c.1652_1666del15 p.P551_V555del RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727416_54727430del15 c.1651_1665del15 p.K551_E555delKPMYE RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727429_54727443del15 c.1652_1666del15 p.E551_K555delEVQWK 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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  • 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
KIT P551_V555del gastrointestinal stromal tumor sensitive Sorafenib Preclinical - Pdx Actionable In a preclinical study, Nexavar (sorafenib) inhibited Erk signaling, induced apoptosis, resulted in tumor growth inhibition in patient derived xenograft models of gastrointestinal stromal tumor harboring KIT P551_V555del (PMID: 19139124). 19139124