Gene Variant Detail

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

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Transcript NM_000222
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 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Protein Effect Treatment Approaches
KIT M541L unknown
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