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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 |
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 |
---|---|---|---|---|---|
XM_017008178.1 | chr4:g.54727419_54727442del24 | c.1651_1674del24 | p.P551_K558del | 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_001385286.1 | chr4:g.54727431_54727454del24 | c.1651_1674del24 | p.V551_E558delVQWKVVEE | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727419_54727442del24 | c.1651_1674del24 | p.P551_K558delPMYEVQWK | RefSeq | GRCh38/hg38 |
NM_001385284.1 | chr4:g.54727418_54727441del24 | c.1653_1676del24 | p.P552_K559delPMYEVQWK | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54727430_54727453del24 | c.1653_1676del24 | p.V552_E559delVQWKVVEE | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54727431_54727454del24 | c.1651_1674del24 | p.V551_E558delVQWKVVEE | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727419_54727442del24 | c.1651_1674del24 | p.P551_K558del | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54727418_54727441del24 | c.1653_1676del24 | p.P552_K559delPMYEVQWK | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 | 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 |
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 | 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 |