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Gene KIT
Variant Q556_D572del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Q556_D572del results in the deletion of 17 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 572 (PMID: 16226710). Q556_D572del 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 Q556_D572del

KIT mutant KIT exon11 KIT exon 11 del KIT Q556_D572del

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Transcript NM_000222.3
gDNA chr4:g.54727435_54727485del51
cDNA c.1667_1717del51
Protein p.Q556_D572del17
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727435_54727485del51 c.1667_1717del51 p.Q556_D572del RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727432_54727482del51 c.1667_1717del51 p.V556_I572del17 RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727443_54727493del51 c.1666_1716del51 p.V556_Q572del17 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727443_54727493del51 c.1666_1716del51 p.V556_Q572del17 RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727432_54727482del51 c.1667_1717del51 p.V556_I572del17 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727435_54727485del51 c.1667_1717del51 p.Q556_D572del17 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727446_54727496del51 c.1666_1716del51 p.V556_L572del17 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727435_54727485del51 c.1667_1717del51 p.Q556_D572del17 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727446_54727496del51 c.1666_1716del51 p.V556_L572del17 RefSeq GRCh38/hg38

Filtering

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