Gene Variant Detail

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Gene CHEK2
Variant G14Afs*47
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 G14Afs*47 indicates a shift in the reading frame starting at amino acid 14 and terminating 47 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). Due to loss of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), G14Afs*47 is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 G14Afs*47

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Transcript NM_007194.4
gDNA chr22:g.28734682delC
cDNA c.41delG
Protein p.G14Afs*47
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441105.1 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734682delC c.41delG p.G14Afs*47 RefSeq GRCh38/hg38

Filtering

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