Gene Variant Detail

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Gene KIT
Variant E554_D572delinsA
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT E554_D572delinsA results in a deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 554 to 572, combined with the insertion of an alanine (A) at the same site (PMID: 16226710). E554_D572delinsA 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_D572delinsA

KIT mutant KIT exon11 KIT exon 11 del KIT E554_D572delinsA

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Transcript NM_000222.3
gDNA chr4:g.54727428_54727484delinsGCA
cDNA c.1660_1716delinsGCA
Protein p.E554_D572delinsA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727428_54727484delinsGCA c.1660_1716delinsGCA p.E554_D572delinsA RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727428_54727484delinsGCA c.1660_1716delinsGCA p.E554_D572delinsA RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727428_54727484delinsGCA c.1660_1716delinsGCA p.E554_D572delinsA RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727428_54727484delinsGCA c.1660_1716delinsGCA p.E554_D572delinsA RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727428_54727484delinsGCA c.1660_1716delinsGCA p.E554_D572delinsA RefSeq GRCh38/hg38
NM_000222 chr4:g.54727428_54727484delinsGCA c.1660_1716delinsGCA p.E554_D572delinsA RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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