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Gene CHEK2
Variant E122Dfs*8
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 E122Dfs*8 indicates a shift in the reading frame starting at amino acid 122 and terminating 8 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). E122Dfs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of E122 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 E122Dfs*8

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Transcript NM_007194.4
gDNA chr22:g.28725318_28725321delATAT
cDNA c.366_369delATAT
Protein p.E122Dfs*8
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349956.1 chr22:g.28725318_28725321delATAT c.366_369delATAT p.E122Dfs*8 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725318_28725321delATAT c.366_369delATAT p.E122Dfs*8 RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725318_28725321delATAT c.366_369delATAT p.E122Dfs*8 RefSeq GRCh38/hg38
XM_006724114.3 chr22:g.28710040_28710041insTGGGGGGTTGT c.365_366insCAACCCCCCAA p.E122Dfs*8 RefSeq GRCh38/hg38
NM_007194 chr22:g.28725318_28725321delATAT c.366_369delATAT p.E122Dfs*8 RefSeq GRCh38/hg38
XM_011529843 chr22:g.28725318_28725321delATAT c.366_369delATAT p.E122Dfs*8 RefSeq GRCh38/hg38
NM_145862 chr22:g.28725318_28725321delATAT c.366_369delATAT p.E122Dfs*8 RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28725318_28725321delATAT c.366_369delATAT p.E122Dfs*8 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725318_28725321delATAT c.366_369delATAT p.E122Dfs*8 RefSeq GRCh38/hg38
XM_006724114 chr22:g.28710041_28710042insGGGGGGAAATC c.365_366insTTTCCCCCCGA p.E122Dfs*8 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725318_28725321delATAT c.366_369delATAT p.E122Dfs*8 RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries