Gene Variant Detail

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Gene KIT
Variant K550_P551del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT K550_P551del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 551 (PMID: 16226710). K550_P551del 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 K550_P551del

KIT mutant KIT exon11 KIT exon 11 del KIT K550_P551del

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Transcript NM_000222.3
gDNA chr4:g.54727417_54727422delAACCCA
cDNA c.1649_1654delAACCCA
Protein p.K550_P551delKP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385288.1 chr4:g.54727425_54727430delTATGAA c.1648_1653delTATGAA p.Y550_E551delYE RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727417_54727422delAACCCA c.1649_1654delAACCCA p.K550_P551del RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727428_54727433delGAAGTA c.1648_1653delGAAGTA p.E550_V551delEV RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727428_54727433delGAAGTA c.1648_1653delGAAGTA p.E550_V551delEV RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727417_54727422delAACCCA c.1649_1654delAACCCA p.K550_P551del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727417_54727422delAACCCA c.1649_1654delAACCCA p.K550_P551delKP RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727323_54727419del97 c.1649_1654del97 p.Q550_K551delQK RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727323_54727419del97 c.1649_1654del97 p.Q550_K551delQK RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727425_54727430delTATGAA c.1648_1653delTATGAA p.Y550_E551delYE RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727417_54727422delAACCCA c.1649_1654delAACCCA p.K550_P551delKP RefSeq GRCh38/hg38

Filtering

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Sorting

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