KIT S476I
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 S476I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT S476I lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). S476I confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit in cell culture (PMID: 19865100, PMID: 30094412).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT S476I

KIT mutant KIT exon9 KIT S476I

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.54725937G>T
cDNA c.1427G>T
Protein p.S476I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001093772 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
NM_000222 chr4:g.54725937G>T c.1427G>T p.S476I RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54725937G>T c.1427G>T p.S476I 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 S476I mast-cell leukemia predicted - sensitive Midostaurin Preclinical - Patient cell culture Actionable In a preclinical study, treatment with Rydapt (midostaurin) decreased proliferation of patient-derived neoplastic mast cells harboring KIT S476I in culture (PMID: 25209843). 25209843
KIT S476I mast-cell leukemia predicted - sensitive Nilotinib Preclinical - Patient cell culture Actionable In a preclinical study, treatment with Tasigna (nilotinib) decreased proliferation of patient-derived neoplastic mast cells harboring KIT S476I in culture (PMID: 25209843). 25209843