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| Gene | KIT |
| Variant | P577_E583dup |
| Impact List | duplication |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT P577_E583dup (also referred to as E583_F584insPYDHKWE) indicates the insertion of seven duplicate amino acids, proline (P)-577 through glutamic acid (E)-583, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P577_E583dup has been identified in sequencing studies (PMID: 19768731), 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 P577_E583dup |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727497_54727517 |
| cDNA | c.1729_1749 |
| Protein | p.P577_E583 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017008178.1 | chr4:g.54727497_54727517 | c.1729_1749 | p.P577_E583 | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54727497_54727517 | c.1729_1749 | p.P577_E583 | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727497_54727517 | c.1729_1749 | p.P577_E583 | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727497_54727517 | c.1729_1749 | p.P577_E583 | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727497_54727517 | c.1729_1749 | p.P577_E583 | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727497_54727517 | c.1729_1749 | p.P577_E583 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT P577_E583dup | unknown |