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Gene | KIT |
Variant | M552_E554delinsI |
Impact List | indel |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT M552_E554delinsI results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 554, combined with the insertion of an isoleucine (I) at the same site (PMID: 16226710). M552_E554delinsI 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 M552_E554delinsI KIT mutant KIT exon11 KIT exon 11 del KIT M552_E554delinsI |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727424_54727429delGTATGA |
cDNA | c.1656_1661delGTATGA |
Protein | p.M552_E554delinsI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.3 | chr4:g.54727424_54727429delGTATGA | c.1656_1661delGTATGA | p.M552_E554delinsI | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727424_54727429delGTATGA | c.1656_1661delGTATGA | p.M552_E554delinsI | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727424_54727429delGTATGA | c.1656_1661delGTATGA | p.M552_E554delinsI | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727424_54727429delGTATGA | c.1656_1661delGTATGA | p.M552_E554delinsI | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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