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Gene | KIT |
Variant | K558_G565delinsR |
Impact List | indel |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT K558_G565delinsR results in a deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 565, combined with the insertion of an arginine (R) at the same site (PMID: 16226710). K558_G565delinsR results in constitutive phosphorylation of Kit in patient-derived xenograft (PDX) models (PMID: 25926077), 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 K558_G565delinsR KIT mutant KIT exon11 KIT exon 11 del KIT K558_G565delinsR |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727441_54727461del21 |
cDNA | c.1673_1693del21 |
Protein | p.K558_G565delinsR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222 | chr4:g.54727441_54727461del21 | c.1673_1693del21 | p.K558_G565delinsR | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727441_54727461del21 | c.1673_1693del21 | p.K558_G565delinsR | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727441_54727461del21 | c.1673_1693del21 | p.K558_G565delinsR | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727441_54727461del21 | c.1673_1693del21 | p.K558_G565delinsR | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727441_54727461del21 | c.1673_1693del21 | p.K558_G565delinsR | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727441_54727461del21 | c.1673_1693del21 | p.K558_G565delinsR | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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