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Gene CHEK2
Variant Q27*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 Q27* results in a premature truncation of the Chek2 protein at amino acid 27 of 543 (UniProt.org). Q27* has not been characterized, however, due to the effects of other truncations downstream of Q27 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 Q27*

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Transcript NM_007194.4
gDNA chr22:g.28734643G>A
cDNA c.79C>T
Protein p.Q27*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28734643G>A c.79C>T p.Q27* RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References