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Gene CHEK1
Variant E309*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions CHEK1 E309* results in a premature truncation of the Chek1 protein at amino acid 309 of 476 (UniProt.org). E309* results in autophosphorylation and phosphorylation of Cdc25c similar to wild-type Chek1 levels in in vitro assays, however, also demonstrates delayed cell cycle progression and impaired inactivating phosphorylation during mitosis in culture (PMID: 14681223), and therefore, its effect on Chek1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 E309*

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Transcript NM_001114121.2
gDNA chr11:g.125644092G>T
cDNA c.925G>T
Protein p.E309*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001244846.1 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001114122 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001244846 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
XM_017017146 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001114121 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001274 chr11:g.125644092G>T c.925G>T p.E309* RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125644092G>T c.925G>T p.E309* 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")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References