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 N567_P573del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT N567_P573del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 567 to 573 (PMID: 16226710). N567_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 N567_P573del

KIT mutant KIT exon11 KIT exon 11 del KIT N567_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.54727468_54727488del21
cDNA c.1700_1720del21
Protein p.N567_P573delNYVYIDP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727468_54727488del21 c.1700_1720del21 p.N567_P573delNYVYIDP RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727464_54727484del21 c.1699_1719del21 p.N567_D573delNNYVYID RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727479_54727499del21 c.1699_1719del21 p.I567_P573delIDPTQLP RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727479_54727499del21 c.1699_1719del21 p.I567_P573delIDPTQLP RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727468_54727488del21 c.1700_1720del21 p.N567_P573delNYVYIDP RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727464_54727484del21 c.1699_1719del21 p.N567_D573delNNYVYID RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727468_54727488del21 c.1700_1720del21 p.N567_P573delNYVYIDP RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727479_54727499del21 c.1699_1719del21 p.I567_P573delIDPTQLP RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727464_54727484del21 c.1699_1719del21 p.N567_D573delNNYVYID RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727464_54727484del21 c.1699_1719del21 p.N567_D573delNNYVYID RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727476_54727496del21 c.1699_1719del21 p.Y567_L573delYIDPTQL RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727479_54727499del21 c.1699_1719del21 p.I567_P573delIDPTQLP RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727468_54727488del21 c.1700_1720del21 p.N567_P573delNYVYIDP RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727476_54727496del21 c.1699_1719del21 p.Y567_L573delYIDPTQL RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727464_54727484del21 c.1699_1719del21 p.N567_D573delNNYVYID RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727476_54727496del21 c.1699_1719del21 p.Y567_L573delYIDPTQL RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727476_54727496del21 c.1699_1719del21 p.Y567_L573delYIDPTQL RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727464_54727484del21 c.1699_1719del21 p.N567_D573delNNYVYID RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727476_54727496del21 c.1699_1719del21 p.Y567_L573delYIDPTQL RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727479_54727499del21 c.1699_1719del21 p.I567_P573delIDPTQLP RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727468_54727488del21 c.1700_1720del21 p.N567_P573delNYVYIDP RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727479_54727499del21 c.1699_1719del21 p.I567_P573delIDPTQLP RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727476_54727496del21 c.1699_1719del21 p.Y567_L573delYIDPTQL RefSeq GRCh38/hg38
NM_000222 chr4:g.54727468_54727488del21 c.1700_1720del21 p.N567_P573delNYVYIDP 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 Protein Effect Treatment Approaches
KIT N567_P573del gain of function - predicted KIT Inhibitor