Gene Variant Detail

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Gene KIT
Variant K558_V559delinsN
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT K558_V559delinsN results in a deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 559, combined with the insertion of an asparagine (N) at the same site (PMID: 16226710). K558_V559delinsN is associated with resistance to KIT inhibitors (PMID: 38408285) and 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 Y
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT K558_V559delinsN

KIT mutant KIT exon11 KIT exon 11 del KIT K558_V559delinsN

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Transcript NM_000222.3
gDNA chr4:g.54727442_54727444delGGT
cDNA c.1674_1676delGGT
Protein p.K558_V559delinsN
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727442_54727444delGGT c.1674_1676delGGT p.K558_V559delinsN RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727442_54727444delGGT c.1674_1676delGGT p.K558_V559delinsN RefSeq GRCh38/hg38

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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")

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