KIT Q575_P577delinsH
Gene Variant Detail

Request Content

Contact

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 Q575_P577delinsH
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Q575_P577delinsH results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 575 to 577, combined with the insertion of a histidine (H) at the same site (PMID: 16226710). Q575_P577delinsH 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
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT Q575_P577delinsH

KIT mutant KIT exon11 KIT exon 11 del KIT Q575_P577delinsH

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000222.3
gDNA chr4:g.54727493_54727498delACTTCC
cDNA c.1725_1730delACTTCC
Protein p.Q575_P577delinsH
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54727493_54727498delACTTCC c.1725_1730delACTTCC p.Q575_P577delinsH RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727493_54727498delACTTCC c.1725_1730delACTTCC p.Q575_P577delinsH RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT Q575_P577delinsH thymus squamous cell carcinoma predicted - sensitive Lenvatinib Case Reports/Case Series Actionable In a clinical case study, Lenvima (lenvatinib) treatment resulted in a partial response with treatment lasting 10 months in a patient with metastatic thymic squamous cell carcinoma harboring KIT Q575_P577delinsH (PMID: 38706977). 38706977
KIT Q575_P577delinsH gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical study, Gleevec (imatinib) treatment resulted in partial responses in 2 patients with metastatic rectal gastrointestinal stromal tumor harboring germline KIT Q575_P577delinsH, with treatment ongoing for at least 58 months in one patient and disease stabilization ongoing for at least 12 months in the second patient (PMID: 18183595). 18183595