CHEK2 T410fs
Gene Variant Detail

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Gene CHEK2
Variant T410fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions CHEK2 T410fs (corresponds to T367fs in the canonical isoform) results in a change in the amino acid sequence of the Chek2 protein beginning at aa 410 of 586, likely resulting in premature truncation of the functional protein (UniProt.org). T410fs (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 T410fs

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Transcript NM_001005735.2
gDNA chr22:g.(28695870_28695871)
cDNA c.(1228_1227)
Protein p.T410fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529843 chr22:g.(28694064_28694065) c.(1228_1227) p.T410fs RefSeq GRCh38/hg38
NM_001005735 chr22:g.(28695870_28695871) c.(1228_1227) p.T410fs RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.(28695870_28695871) c.(1228_1227) p.T410fs RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.(28694064_28694065) c.(1228_1227) p.T410fs RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.(28695870_28695871) c.(1228_1227) p.T410fs RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.(28694064_28694065) c.(1228_1227) p.T410fs 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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