Gene Variant Detail

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Gene CHEK2
Variant L183F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 L183F does not lie within any known functional domains of the Chek2 protein (UniProt.org). L183F results in decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to lead to a loss of Chek2 protein function.
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_007194.3 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_011529844 chr22:g.28725297_28725299delCAGinsAAA c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
XM_011529840 chr22:g.28725297_28725299delCAGinsAAA c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_011529839.2 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 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28725297_28725299delCTGinsTTT c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38
XM_011529839.3 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
NM_007194.4 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725020C>A c.549G>T p.L183F RefSeq GRCh38/hg38
XM_011529844.3 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
XM_011529844.2 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_011529840.3 chr22:g.28725297_28725299delCTGinsTTT c.547_549delCTGinsTTT p.L183F RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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