Gene Variant Detail

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Gene KIT
Variant K558_Y570delinsR
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT K558_Y570delinsR results in the deletion of thirteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 570, combined with the insertion of an arginine (R) at the same site (PMID: 16226710). K558_Y570delinsR 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_Y570delinsR

KIT mutant KIT exon11 KIT exon 11 del KIT K558_Y570delinsR

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Transcript NM_000222.3
gDNA chr4:g.54727440_54727478delinsAGG
cDNA c.1672_1710delinsAGG
Protein p.K558_Y570delinsR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727440_54727478delinsAGG c.1672_1710delinsAGG p.K558_Y570delinsR RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727440_54727478delinsAGG c.1672_1710delinsAGG p.K558_Y570delinsR RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727440_54727478delinsAGG c.1672_1710delinsAGG p.K558_Y570delinsR RefSeq GRCh38/hg38
NM_000222 chr4:g.54727440_54727478delinsAGG c.1672_1710delinsAGG p.K558_Y570delinsR RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727440_54727478delinsAGG c.1672_1710delinsAGG p.K558_Y570delinsR RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727440_54727478delinsAGG c.1672_1710delinsAGG p.K558_Y570delinsR 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 Protein Effect Treatment Approaches
KIT K558_Y570delinsR gain of function - predicted KIT Inhibitor