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Gene KIT
Variant Y553_E554del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Y553_E554del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 554 (PMID: 16226710). Y553_E554del 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 Y553_E554del

KIT mutant KIT exon11 KIT exon 11 del KIT Y553_E554del

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Transcript NM_000222.3
gDNA chr4:g.54727425_54727430delTATGAA
cDNA c.1657_1662delTATGAA
Protein p.Y553_E554delYE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772.2 chr4:g.54727437_54727442delTGGAAG c.1657_1662delTGGAAG p.W553_K554delWK RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727437_54727442delTGGAAG c.1657_1662delTGGAAG p.W553_K554delWK RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727425_54727430delTATGAA c.1657_1662delTATGAA p.Y553_E554del RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727422_54727427delATGTAT c.1657_1662delATGTAT p.M553_Y554delMY RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727425_54727430delTATGAA c.1657_1662delTATGAA p.Y553_E554delYE RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727434_54727439delCAGTGG c.1657_1662delCAGTGG p.Q553_W554delQW RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727425_54727430delTATGAA c.1657_1662delTATGAA p.Y553_E554delYE RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727425_54727430delTATGAA c.1657_1662delTATGAA p.Y553_E554del RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727422_54727427delATGTAT c.1657_1662delATGTAT p.M553_Y554delMY RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727434_54727439delCAGTGG c.1657_1662delCAGTGG p.Q553_W554delQW RefSeq GRCh38/hg38

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