Gene Variant Detail

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 N566_P573del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT N566_P573del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 566 to 573 (PMID: 16226710). N566_P573del 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 N566_P573del

KIT mutant KIT exon11 KIT exon 11 del KIT N566_P573del

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.54727465_54727488del24
cDNA c.1697_1720del24
Protein p.N566_P573delNNYVYIDP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385292.1 chr4:g.54727473_54727496del24 c.1696_1719del24 p.V566_L573delVYIDPTQL RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727465_54727488del24 c.1697_1720del24 p.N566_P573del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727478_54727501del24 c.1698_1721del24 p.I567_Y574delIDPTQLPY RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727478_54727501del24 c.1698_1721del24 p.I567_Y574delIDPTQLPY RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727465_54727488del24 c.1697_1720del24 p.N566_P573delNNYVYIDP RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727461_54727484del24 c.1696_1719del24 p.G566_D573delGNNYVYID RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727465_54727488del24 c.1697_1720del24 p.N566_P573del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727465_54727488del24 c.1697_1720del24 p.N566_P573delNNYVYIDP RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727461_54727484del24 c.1696_1719del24 p.G566_D573delGNNYVYID RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727473_54727496del24 c.1696_1719del24 p.V566_L573delVYIDPTQL 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