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Gene KIT
Variant E554_Y570del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT E554_Y570del results in the deletion of 17 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 554 to 570 (PMID: 16226710). E554_Y570del 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 E554_Y570del

KIT mutant KIT exon11 KIT exon 11 del KIT E554_Y570del

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Transcript NM_000222.3
gDNA chr4:g.54727428_54727478del51
cDNA c.1660_1710del51
Protein p.E554_Y570del17
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385284.1 chr4:g.54727427_54727477del51 c.1662_1712del51 p.E555_Y571del17 RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727427_54727477del51 c.1662_1712del51 p.E555_Y571del17 RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727437_54727487del51 c.1660_1710del51 p.W554_P570del17 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727437_54727487del51 c.1660_1710del51 p.W554_P570del17 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727440_54727490del51 c.1660_1710del51 p.K554_T570del17 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727440_54727490del51 c.1660_1710del51 p.K554_T570del17 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727428_54727478del51 c.1660_1710del51 p.E554_Y570del RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727428_54727478del51 c.1660_1710del51 p.E554_Y570del17 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727428_54727478del51 c.1660_1710del51 p.E554_Y570del17 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 Protein Effect Treatment Approaches
KIT E554_Y570del gain of function - predicted KIT Inhibitor
KIT E554_Y570del KIT V654A