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| Gene | KIT |
| Variant | T574_H580dup |
| Impact List | duplication |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT T574_H580dup indicates the insertion of seven duplicate amino acids, threonine (T)-574 through histidine (H)-580, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). T574_H580dup has been identified in sequencing studies (PMID: 30101387), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon11 KIT T574_H580dup |
| Transcript | NM_000222 |
| gDNA | chr4:g.54727509_54727510insCACAACTTCCTTATGACCATA |
| cDNA | c.1741_1742insCACAACTTCCTTATGACCATA |
| Protein | p.T574_H580dup |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222 | chr4:g.54727509_54727510insCACAACTTCCTTATGACCATA | c.1741_1742insCACAACTTCCTTATGACCATA | p.T574_H580dup | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727488_54727508 | c.1720_1740 | p.T574_H580 | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727488_54727508 | c.1720_1740 | p.T574_H580 | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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