Gene Variant Detail

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Gene CHEK2
Variant D82_E86del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 D82_E86del results in the deletion of five amino acids in the Chek2 protein from amino acid 82 to 86 (UniProt.org). D82_E86del (reported as P75_E79del) results in decreased Chek2 kinase activity in an in vitro assay (PMID: 17721994), 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 D82_E86del

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Transcript NM_007194.4
gDNA chr22:g.28734485_28734499del15
cDNA c.246_260del15
Protein p.D82_E86delDQEPE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86delDQEPE RefSeq GRCh38/hg38
XM_006724114.4 chr22:g.28711964_28711978del15 c.244_258del15 p.T82_V86delTCKKV RefSeq GRCh38/hg38
NM_001257387.2 chr22:g.28699926_28703507del3582 c.244_258del3582 p.L82_G86delLMEGG RefSeq GRCh38/hg38
XM_011529842.3 chr22:g.28734494_28734508del15 c.244_258del15 p.Y82_E86delYSIPE RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86del RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28734494_28734508del15 c.244_258del15 p.Y82_E86delYSIPE RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86del RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28734494_28734508del15 c.244_258del15 p.Y82_E86delYSIPE RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86delDQEPE RefSeq GRCh38/hg38
XM_011529845.3 chr22:g.28699926_28703507del3582 c.244_258del3582 p.L82_G86delLMEGG RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.28734494_28734508del15 c.244_258del15 p.Y82_E86delYSIPE RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28734494_28734508del15 c.244_258del15 p.Y82_E86delYSIPE RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86delDQEPE RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86delDQEPE RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86del RefSeq GRCh38/hg38
XM_047441108.1 chr22:g.28711964_28711978del15 c.244_258del15 p.T82_V86delTCKKV RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86delDQEPE RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28734494_28734508del15 c.244_258del15 p.Y82_E86delYSIPE RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86del RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86del RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86delDQEPE RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28734494_28734508del15 c.244_258del15 p.Y82_E86delYSIPE RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28734494_28734508del15 c.244_258del15 p.Y82_E86delYSIPE RefSeq GRCh38/hg38
XM_006724116.3 chr22:g.28710051_28711914del1864 c.244_258del1864 p.E82_A86delEADPA RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734485_28734499del15 c.246_260del15 p.D82_E86delDQEPE RefSeq GRCh38/hg38

Filtering

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  • 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")

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