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 results in decreased protein stability and reduced Chk2 phosphorylation in response to DNA damage (PMID: 16982735), and loss of Kap1 phosphorylation at serine (S)-473 in in vitro assays and in cell culture (PMID: 31050813, PMID: 34903604), and loss of kinase activity in an in vitro assay (PMID: 11053450).
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
NM_001005735.2 chr22:g.(28695870_28695871) c.(1228_1227) p.T410fs RefSeq GRCh38/hg38
NM_001005735 chr22:g.(28695870_28695871) c.(1228_1227) p.T410fs RefSeq GRCh38/hg38
XM_011529843 chr22:g.(28694064_28694065) 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_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")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
CHEK2 T410fs loss of function Olaparib