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| Gene | KIT |
| Variant | K581_W582insDPTQLPYDH |
| Impact List | insertion |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT K581_W582insDPTQLPYDH results in the insertion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein between amino acids 581 and 582 (PMID: 16226710). K581_W582insDPTQLPYDH has not been characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon11 KIT K581_W582insDPTQLPYDH |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT |
| cDNA | c.1743_1744insGACCCTACACAACTTCCTTATGACCAT |
| Protein | p.K581_W582insDPTQLPYDH |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222 | chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT | c.1743_1744insGACCCTACACAACTTCCTTATGACCAT | p.K581_W582insDPTQLPYDH | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT | c.1743_1744insGACCCTACACAACTTCCTTATGACCAT | p.K581_W582insDPTQLPYDH | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT | c.1743_1744insGACCCTACACAACTTCCTTATGACCAT | p.K581_W582insDPTQLPYDH | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT | c.1743_1744insGACCCTACACAACTTCCTTATGACCAT | p.K581_W582insDPTQLPYDH | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT | c.1743_1744insGACCCTACACAACTTCCTTATGACCAT | p.K581_W582insDPTQLPYDH | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT | c.1743_1744insGACCCTACACAACTTCCTTATGACCAT | p.K581_W582insDPTQLPYDH | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|