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Gene CHEK2
Variant T367fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions CHEK2 T367fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 367 of 543, resulting in premature truncation of the functional protein within the kinase domain (UniProt.org). T367fs confers a loss of function to the Chek2 protein as demonstrated by reduced tyrosine phosphorylation in response to DNA damage (PMID: 16982735).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 T367fs

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Transcript NM_007194.4
gDNA chr22:g.(28695870_28695871)
cDNA c.(1099_1098)
Protein p.T367fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.(28695870_28695871) c.(1099_1098) p.T367fs RefSeq GRCh38/hg38
NM_007194.4 chr22:g.(28695870_28695871) c.(1099_1098) p.T367fs RefSeq GRCh38/hg38
NM_007194 chr22:g.(28695870_28695871) c.(1099_1098) p.T367fs RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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