CHEK2 M381*
Gene Variant Detail

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Gene CHEK2
Variant M381*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 M381* results in a premature truncation within the protein kinase domain of the Chek2 protein at amino acid 381 of 543 (UniProt.org). M381* has not been characterized, however, due to the effects of other truncation mutations downstream of M381 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 M381*

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Transcript NM_007194.4
gDNA chr22:g.28695827_28695828delATinsTA
cDNA c.1141_1142delATinsTA
Protein p.M381*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194 chr22:g.28695827_28695828delATinsTA c.1141_1142delATinsTA p.M381* RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695827_28695828delATinsTA c.1141_1142delATinsTA p.M381* RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695827_28695828delATinsTA c.1141_1142delATinsTA p.M381* 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 )
  • 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