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Gene KIT
Variant M541L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT M541L lies within the transmembrane domain of the Kit protein (PMID: 16226710). M541L is a common polymorphism that has been demonstrated to increase proliferation in the presence of ligand compared to wild-type Kit in culture (PMID: 18795925), but is not associated with tumorigenesis in the population (PMID: 16307017, PMID: 21757432), and therefore, its effect on Kit protein function is unknown.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT M541L

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Transcript NM_000222.3
gDNA chr4:g.54727298A>C
cDNA c.1621A>C
Protein p.M541L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178.1 chr4:g.54727298A>C c.1621A>C p.M541L RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727298A>C c.1621A>C p.M541L RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727298A>C c.1621A>C p.M541L RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727298A>C c.1621A>C p.M541L RefSeq GRCh38/hg38
NM_000222 chr4:g.54727298A>C c.1621A>C p.M541L RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727298A>C c.1621A>C p.M541L 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT M541L chronic leukemia sensitive Imatinib Phase I Actionable In Phase I trials, KIT M541L has been associated with response to Gleevec (imatinib) in chronic eosinophilic leukemia, NOS (PMID: 25015329) and mastocytosis (PMID: 18795925). 25015329 18795925