CHEK2 W93Gfs*17
Gene Variant Detail

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Gene CHEK2
Variant W93Gfs*17
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 W93Gfs*17 indicates a shift in the reading frame starting at amino acid 93 and terminating 17 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). W93Gfs*17 results in decreased Kap1 phosphorylation in culture (PMID: 34903604), 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 W93Gfs*17

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Transcript NM_007194.4
gDNA chr22:g.28734445delA
cDNA c.277delT
Protein p.W93Gfs*17
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28734445delA c.277delT p.W93Gfs*17 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734445delA c.277delT p.W93Gfs*17 RefSeq GRCh38/hg38
NM_007194 chr22:g.28734445delA c.277delT p.W93Gfs*17 RefSeq GRCh38/hg38
XM_011529843 chr22:g.28734445delA c.277delT p.W93Gfs*17 RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28734445_28734446insTTGGGCC c.276_277insGGCCCAA p.W93Gfs*17 RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734445_28734446insTTGGGCC c.276_277insGGCCCAA p.W93Gfs*17 RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734445_28734446insTTGGGCC c.276_277insGGCCCAA p.W93Gfs*17 RefSeq GRCh38/hg38
XM_011529841 chr22:g.28734446_28734447insCGGGCCG c.276_277insGGCCCGC p.W93Gfs*17 RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734445delA c.277delT p.W93Gfs*17 RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734445_28734446insTTGGGCC c.276_277insGGCCCAA p.W93Gfs*17 RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734445delA c.277delT p.W93Gfs*17 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734445delA c.277delT p.W93Gfs*17 RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734445_28734446insTTGGGCC c.276_277insGGCCCAA p.W93Gfs*17 RefSeq GRCh38/hg38
NM_145862 chr22:g.28734445delA c.277delT p.W93Gfs*17 RefSeq GRCh38/hg38
NM_001005735 chr22:g.28734446_28734447insCGGGCCG c.276_277insGGCCCGC p.W93Gfs*17 RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734445delA c.277delT p.W93Gfs*17 RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734445_28734446insTTGGGCC c.276_277insGGCCCAA p.W93Gfs*17 RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries