CHEK2 L183F
Gene Variant Detail

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Gene CHEK2
Variant L183F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 L183F does not lie within any known functional domains of the Chek2 protein (UniProt.org). L183F confers a loss of function to Chek2 as demonstrated by decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065) and decreased Kap1 phosphorylation and Chek2 autophosphorylation in CHEK2-null cells in culture (PMID: 37449874).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 L183F

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Transcript NM_007194.4
gDNA chr22:g.28725020C>A
cDNA c.549G>T
Protein p.L183F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
XM_011529839.2 chr22:g.28725297_28725299delCTGinsTTT c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28725297_28725299delCTGinsTTT c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_011529840 chr22:g.28725297_28725299delCAGinsAAA c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28725297_28725299delCTGinsTTT c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_011529839 chr22:g.28725297_28725299delCAGinsAAA c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_011529844 chr22:g.28725297_28725299delCAGinsAAA c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28725297_28725299delCTGinsTTT c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28725297_28725299delCTGinsTTT c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_006724114 chr22:g.28699852G>A c.547C>T p.L183F RefSeq GRCh38/hg38
XM_011529844.2 chr22:g.28725297_28725299delCTGinsTTT c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
NM_145862 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
NM_007194 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28725297_28725299delCTGinsTTT c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_006724114.3 chr22:g.28699852G>A c.547C>T p.L183F RefSeq GRCh38/hg38

Filtering

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  • 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries