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Gene | KIT |
Variant | N564_L576del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT N564_L576del results in the deletion of 13 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 564 to 576 (PMID: 16226710). N564_L576del 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 N564_L576del KIT mutant KIT exon11 KIT exon 11 del KIT N564_L576del |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727458_54727496del39 |
cDNA | c.1690_1728del39 |
Protein | p.N564_L576del13 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385286.1 | chr4:g.54727470_54727508del39 | c.1690_1728del39 | p.Y564_H576del13 | RefSeq | GRCh38/hg38 |
XM_005265740 | chr4:g.54727455_54727493del39 | c.1690_1728del39 | p.I564_Q576del13 | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54727455_54727493del39 | c.1690_1728del39 | p.I564_Q576del13 | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54727470_54727508del39 | c.1690_1728del39 | p.Y564_H576del13 | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54727458_54727496del39 | c.1690_1728del39 | p.N564_L576del13 | RefSeq | GRCh38/hg38 |
XM_017008180 | chr4:g.54727470_54727508del39 | c.1690_1728del39 | p.Y564_H576del13 | RefSeq | GRCh38/hg38 |
XM_017008179 | chr4:g.54727467_54727505del39 | c.1690_1728del39 | p.N564_D576del13 | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727458_54727496del39 | c.1690_1728del39 | p.N564_L576del13 | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54727467_54727505del39 | c.1690_1728del39 | p.N564_D576del13 | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727458_54727496del39 | c.1690_1728del39 | p.N564_L576del13 | RefSeq | GRCh38/hg38 |
XM_005265742 | chr4:g.54727467_54727505del39 | c.1690_1728del39 | p.N564_D576del13 | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727458_54727496del39 | c.1690_1728del39 | p.N564_L576del13 | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54727470_54727508del39 | c.1690_1728del39 | p.Y564_H576del13 | RefSeq | GRCh38/hg38 |
NM_001385284.1 | chr4:g.54727455_54727493del39 | c.1690_1728del39 | p.I564_Q576del13 | RefSeq | GRCh38/hg38 |
XM_017008179.1 | chr4:g.54727467_54727505del39 | c.1690_1728del39 | p.N564_D576del13 | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54727455_54727493del39 | c.1690_1728del39 | p.I564_Q576del13 | RefSeq | GRCh38/hg38 |
XM_005265740.1 | chr4:g.54727455_54727493del39 | c.1690_1728del39 | p.I564_Q576del13 | RefSeq | GRCh38/hg38 |
NM_001385288.1 | chr4:g.54727467_54727505del39 | c.1690_1728del39 | p.N564_D576del13 | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727458_54727496del39 | c.1690_1728del39 | p.N564_L576del13 | RefSeq | GRCh38/hg38 |
XM_005265742.3 | chr4:g.54727467_54727505del39 | c.1690_1728del39 | p.N564_D576del13 | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727458_54727496del39 | c.1690_1728del39 | p.N564_L576del13 | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54727455_54727493del39 | c.1690_1728del39 | p.I564_Q576del13 | RefSeq | GRCh38/hg38 |
XM_017008180.1 | chr4:g.54727470_54727508del39 | c.1690_1728del39 | p.Y564_H576del13 | RefSeq | GRCh38/hg38 |
NM_001093772.1 | chr4:g.54727470_54727508del39 | c.1690_1728del39 | p.Y564_H576del13 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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