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| Gene | KIT |
| Variant | V560E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT V560E lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V560E has been identified in the scientific literature (PMID: 25695690, PMID: 34250403, PMID: 35982969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon11 KIT V560E |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727447_54727448delTTinsAG |
| cDNA | c.1679_1680delTTinsAG |
| Protein | p.V560E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005265741 | chr4:g.54727444_54727445delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| NM_001385284.1 | chr4:g.54727444_54727445delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| XM_005265740 | chr4:g.54727444_54727445delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54727447_54727448delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727447_54727448delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| XM_005265740.1 | chr4:g.54727444_54727445delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727447_54727448delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727447_54727448delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727447_54727448delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727447_54727448delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| NM_001385290.1 | chr4:g.54727444_54727445delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| XM_005265741.1 | chr4:g.54727444_54727445delTTinsAG | c.1679_1680delTTinsAG | p.V560E | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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