Gene Variant Detail

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Gene KIT
Variant K558_V560delinsN
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT K558_V560delinsN results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 560, combined with the insertion of an asparagine (N) at the same site (PMID: 16226710). K558_V560delinsN 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 K558_V560delinsN

KIT mutant KIT exon11 KIT exon 11 del KIT K558_V560delinsN

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Transcript NM_000222.3
gDNA chr4:g.54727442_54727447delGGTTGT
cDNA c.1674_1679delGGTTGT
Protein p.K558_V560delinsN
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727442_54727447delGGTTGT c.1674_1679delGGTTGT p.K558_V560delinsN RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727442_54727447delGGTTGT c.1674_1679delGGTTGT p.K558_V560delinsN RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727442_54727447delGGTTGT c.1674_1679delGGTTGT p.K558_V560delinsN RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727442_54727447delGGTTGT c.1674_1679delGGTTGT p.K558_V560delinsN RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727442_54727447delGGTTGT c.1674_1679delGGTTGT p.K558_V560delinsN RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727442_54727447delGGTTGT c.1674_1679delGGTTGT p.K558_V560delinsN RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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