KIT P551_E554del
Gene Variant Detail

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Gene KIT
Variant P551_E554del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT P551_E554del results in the deletion of 4 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 554 (PMID: 16226710). P551_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 P551_E554del

KIT mutant KIT exon11 KIT exon 11 del KIT P551_E554del

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Transcript NM_000222.3
gDNA chr4:g.54727419_54727430del12
cDNA c.1651_1662del12
Protein p.P551_E554delPMYE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727419_54727430del12 c.1651_1662del12 p.P551_E554delPMYE RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727419_54727430del12 c.1651_1662del12 p.P551_E554delPMYE RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727428_54727439del12 c.1651_1662del12 p.E551_W554delEVQW RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727419_54727430del12 c.1651_1662del12 p.P551_E554delPMYE RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727428_54727439del12 c.1651_1662del12 p.E551_W554delEVQW RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727433_54727444del12 c.1653_1664del12 p.Q552_V555delQWKV RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727419_54727430del12 c.1651_1662del12 p.P551_E554delPMYE RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727416_54727427del12 c.1651_1662del12 p.K551_Y554delKPMY RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727428_54727439del12 c.1651_1662del12 p.E551_W554delEVQW RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727428_54727439del12 c.1651_1662del12 p.E551_W554delEVQW RefSeq GRCh38/hg38
NM_000222 chr4:g.54727419_54727430del12 c.1651_1662del12 p.P551_E554delPMYE RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727428_54727439del12 c.1651_1662del12 p.E551_W554delEVQW RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727419_54727430del12 c.1651_1662del12 p.P551_E554delPMYE RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727433_54727444del12 c.1653_1664del12 p.Q552_V555delQWKV RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727416_54727427del12 c.1651_1662del12 p.K551_Y554delKPMY RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727428_54727439del12 c.1651_1662del12 p.E551_W554delEVQW RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727433_54727444del12 c.1653_1664del12 p.Q552_V555delQWKV RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727416_54727427del12 c.1651_1662del12 p.K551_Y554delKPMY RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727433_54727444del12 c.1653_1664del12 p.Q552_V555delQWKV RefSeq GRCh38/hg38

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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT P551_E554del Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_E554del demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT P551_E554del Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_E554del were resistant to treatment with Sutent (sunitinib) in culture (PMID: 25239608). 25239608
KIT P551_E554del Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_E554del were resistant to treatment with Gleevec (imatinib) in culture (PMID: 25239608). 25239608
KIT P551_E554del Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_E554del were resistant to treatment with Stivarga (regorafenib) in culture (PMID: 25239608). 25239608