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Gene KIT
Variant P551_K558del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT P551_K558del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 558 (PMID: 16226710). P551_K558del 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_K558del

KIT mutant KIT exon11 KIT exon 11 del KIT P551_K558del

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Transcript NM_000222.3
gDNA chr4:g.54727419_54727442del24
cDNA c.1651_1674del24
Protein p.P551_K558delPMYEVQWK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772.2 chr4:g.54727431_54727454del24 c.1651_1674del24 p.V551_E558delVQWKVVEE RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727419_54727442del24 c.1651_1674del24 p.P551_K558del RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727418_54727441del24 c.1653_1676del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727419_54727442del24 c.1651_1674del24 p.P551_K558delPMYEVQWK RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727430_54727453del24 c.1653_1676del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727419_54727442del24 c.1651_1674del24 p.P551_K558delPMYEVQWK RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727430_54727453del24 c.1653_1676del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727419_54727442del24 c.1651_1674del24 p.P551_K558del RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727431_54727454del24 c.1651_1674del24 p.V551_E558delVQWKVVEE RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727418_54727441del24 c.1653_1676del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT P551_K558del Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT P551_K558del Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT P551_K558del Advanced Solid Tumor sensitive Regorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Stivarga (regorafenib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT P551_K558del Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608