Gene Variant Detail

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Gene KIT
Variant P577del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT P577del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 577 (PMID: 16226710). P577del has not been characterized, however other 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 P577del

KIT mutant KIT exon11 KIT exon 11 del KIT P577del

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Transcript NM_000222.3
gDNA chr4:g.54727497_54727499delCCT
cDNA c.1729_1731delCCT
Protein p.P577delP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54727495_54727497delTTC c.1730_1732delTTC p.L577delL RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727495_54727497delTTC c.1730_1732delTTC p.L577delL RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727495_54727497delTTC c.1730_1732delTTC p.L577delL RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727497_54727499delCCT c.1729_1731delCCT p.P577delP RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727506_54727508delCAC c.1729_1731delCAC p.H577delH RefSeq GRCh38/hg38
NM_000222 chr4:g.54727497_54727499delCCT c.1729_1731delCCT p.P577delP RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727509_54727511delAAA c.1729_1731delAAA p.K577delK RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727509_54727511delAAA c.1729_1731delAAA p.K577delK RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727506_54727508delCAC c.1729_1731delCAC p.H577delH RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727506_54727508delCAC c.1729_1731delCAC p.H577delH RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727495_54727497delTTC c.1730_1732delTTC p.L577delL RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727497_54727499delCCT c.1729_1731delCCT p.P577delP RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727509_54727511delAAA c.1729_1731delAAA p.K577delK RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727497_54727499delCCT c.1729_1731delCCT p.P577delP RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727495_54727497delTTC c.1730_1732delTTC p.L577delL RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727506_54727508delCAC c.1729_1731delCAC p.H577delH RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727497_54727499delCCT c.1729_1731delCCT p.P577delP RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727509_54727511delAAA c.1729_1731delAAA p.K577delK RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727509_54727511delAAA c.1729_1731delAAA p.K577delK RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727506_54727508delCAC c.1729_1731delCAC p.H577delH RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727495_54727497delTTC c.1730_1732delTTC p.L577delL RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727497_54727499delCCT c.1729_1731delCCT p.P577delP RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727509_54727511delAAA c.1729_1731delAAA p.K577delK RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727506_54727508delCAC c.1729_1731delCAC p.H577delH 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 )
  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References