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Gene KIT
Variant K550_V555delinsI
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT K550_V555delinsI results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 555, combined with the insertion of an isoleucine (I) at the same site (PMID: 16226710). K550_V555delinsI 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 K550_V555delinsI

KIT mutant KIT exon11 KIT exon 11 del KIT K550_V555delinsI

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Transcript NM_000222.3
gDNA chr4:g.54727417_54727431del15
cDNA c.1649_1663del15
Protein .
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727417_54727431del15 c.1649_1663del15 . RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727417_54727431del15 c.1649_1663del15 . RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727417_54727431del15 c.1649_1663del15 . RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727417_54727431del15 c.1649_1663del15 . RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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