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Gene CHEK2
Variant Q10fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 Q10fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 10 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). Q10fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q10 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 Q10fs

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Transcript NM_007194.4
gDNA chr22:g.(28734694_28734695)
cDNA c.(28_27)
Protein p.Q10fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441106.1 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
NM_145862.2 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
NM_145862.2 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
NM_007194.3 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38
NM_007194.4 chr22:g.(28734694_28734695) c.(28_27) p.Q10fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries