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Gene KIT
Variant V559_V560delinsS
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V559_V560delinsS results in a deletion of two amino acids within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of a serine (S) at the same site (PMID: 16226710). V559_V560delinsS 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 V559_V560delinsS

KIT mutant KIT exon11 KIT exon 11 del KIT V559_V560delinsS

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Transcript NM_000222.3
gDNA chr4:g.54727443_54727448delinsAGC
cDNA c.1675_1680delinsAGC
Protein p.V559_V560delinsS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727443_54727448delinsAGC c.1675_1680delinsAGC p.V559_V560delinsS RefSeq GRCh38/hg38
NM_000222 chr4:g.54727443_54727448delinsAGC c.1675_1680delinsAGC p.V559_V560delinsS RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727443_54727448delinsAGC c.1675_1680delinsAGC p.V559_V560delinsS RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727443_54727448delinsAGC c.1675_1680delinsAGC p.V559_V560delinsS RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727443_54727448delinsAGC c.1675_1680delinsAGC p.V559_V560delinsS RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727443_54727448delinsAGC c.1675_1680delinsAGC p.V559_V560delinsS RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References