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Gene CHEK2
Variant R406Vfs*8
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 R406Vfs*8 indicates a shift in the reading frame starting at amino acid 406 and terminating 8 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). R406Vfs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of R406 resulting in disruption of the protein kinase domain (PMID: 11053450), is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R406Vfs*8

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Transcript NM_007194.4
gDNA chr22:g.28695754delG
cDNA c.1216delC
Protein p.R406Vfs*8
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28695754delG c.1216delC p.R406Vfs*8 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695754delG c.1216delC p.R406Vfs*8 RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28695825_28695826insATGGGGGGGGGGGGGGGGGGAC c.1215_1216insGTCCCCCCCCCCCCCCCCCCAT p.R406Vfs*8 RefSeq GRCh38/hg38

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