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Gene CHEK2
Variant E149Ifs*6
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 E149Ifs*6 indicates a shift in the reading frame starting at amino acid 149 and terminating 6 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). E149Ifs*6 has not been characterized, however, due to the effects of other truncation mutations downstream of E149 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 E149Ifs*6

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Transcript NM_007194.4
gDNA chr22:g.28725124_28725125insTTAT
cDNA c.445-1_445insATAA
Protein p.E149Ifs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349956.2 chr22:g.28724923_28724924insATGGGGGGGGGGGGAT c.445-1_445insATCCCCCCCCCCCCAT p.E149Ifs*6 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725124_28725125insTTAT c.445-1_445insATAA p.E149Ifs*6 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725124_28725125insTTAT c.445-1_445insATAA p.E149Ifs*6 RefSeq GRCh38/hg38
NM_145862 chr22:g.28725124_28725125insGAAT c.445-1_445insATTC p.E149Ifs*6 RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725124_28725125insTTAT c.445-1_445insATAA p.E149Ifs*6 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725124_28725125insTTAT c.445-1_445insATAA p.E149Ifs*6 RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28724923_28724924insATGGGGGGGGGGGGAT c.445-1_445insATCCCCCCCCCCCCAT p.E149Ifs*6 RefSeq GRCh38/hg38
XM_011529843 chr22:g.28724923_28724924insAGGGGGGGGGGGGGAT c.445-1_445insATCCCCCCCCCCCCCT p.E149Ifs*6 RefSeq GRCh38/hg38
NM_007194 chr22:g.28725124_28725125insGAAT c.445-1_445insATTC p.E149Ifs*6 RefSeq GRCh38/hg38

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