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Gene CHEK2
Variant N290Ifs*15
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 N290Ifs*15 indicates a shift in the reading frame starting at amino acid 290 and terminating 15 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). N290Ifs*15 has not been characterized, however, due to the effects of other truncation mutations downstream of N290 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 N290Ifs*15

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Transcript NM_007194.3
gDNA chr22:g.28703545_28703546insAT
cDNA c.868_869insTA
Protein p.N290Ifs*15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28703545_28703546insAT c.868_869insTA p.N290Ifs*15 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28703545_28703546insAT c.868_869insTA p.N290Ifs*15 RefSeq GRCh38/hg38

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