KIT M537L - Gene Variant Detail

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Gene KIT
Variant M537L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT M537L (corresponds to M541L in the canonical isoform) lies within the transmembrane domain of the Kit protein (PMID: 16226710). M537L (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 M537L

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Transcript NM_001093772.2
gDNA chr4:g.54727298A>C
cDNA c.1609A>C
Protein p.M537L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180 chr4:g.54727298A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727283A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727283A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727283A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727298A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727298A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727283A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727283A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727298A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727283A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727298A>C c.1609A>C p.M537L RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727298A>C c.1609A>C p.M537L 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References