Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | KIT |
Variant | T574_P577del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT T574_P577del (also referred to as P573_L576del) results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 574 to 577 (PMID: 16226710). T574_P577del is associated with resistance to KIT inhibitors (PMID: 38408285) and has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT act mut KIT exon 11 del KIT T574_P577del KIT mutant KIT exon11 KIT exon 11 del KIT T574_P577del |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727488_54727499del12 |
cDNA | c.1720_1731del12 |
Protein | p.T574_P577del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.3 | chr4:g.54727488_54727499del12 | c.1720_1731del12 | p.T574_P577del | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727488_54727499del12 | c.1720_1731del12 | p.T574_P577del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|