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Gene | KIT |
Variant | V560D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT V560D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 19164557). V560D confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit in cell culture (PMID: 16954519, PMID: 20633291, PMID: 27440273) despite reduced expression, enhanced degradation, and cellular mislocalization (PMID: 27440273). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT V560D KIT mutant KIT exon11 KIT V560D |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727447T>A |
cDNA | c.1679T>A |
Protein | p.V560D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265740.1 | chr4:g.54727444T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54727447T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
NM_001385284.1 | chr4:g.54727444T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727447T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727447T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54727444T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727447T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54727444T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727447T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
XM_005265740 | chr4:g.54727444T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727447T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54727444T>A | c.1679T>A | p.V560D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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