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Gene KIT
Variant L576P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT L576P lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17372901). L576P confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit, and is transforming in cell culture (PMID: 17372901).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT L576P

KIT mutant KIT exon11 KIT L576P

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Transcript NM_000222.3
gDNA chr4:g.54727495T>C
cDNA c.1727T>C
Protein p.L576P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727495T>C c.1727T>C p.L576P RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727495T>C c.1727T>C p.L576P RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727495T>C c.1727T>C p.L576P RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727495T>C c.1727T>C p.L576P RefSeq GRCh38/hg38
NM_000222 chr4:g.54727495T>C c.1727T>C p.L576P RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727495T>C c.1727T>C p.L576P 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 L576P gain of function KIT Inhibitor
KIT W557R KIT L576P