Gene Variant Detail

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Gene CHEK1
Variant H352*
Impact List nonsense
Protein Effect gain of function
Gene Variant Descriptions CHEK1 H352* results in a premature truncation of the Chek1 protein at amino acid 352 of 476 (UniProt.org). H352* confers a gain of function to the Chek1 protein as demonstrated by increased autophosphorylation and phosphorylation of Cdc25c in in vitro assays, and delayed cell cycle progression and impaired inactivating phosphorylation during mitosis in culture (PMID: 14681223).
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 act mut CHEK1 H352*

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Transcript NM_001114121.2
gDNA chr11:g.125644221_125644223delCATinsTAA
cDNA c.1054_1056delCATinsTAA
Protein p.H352*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001244846 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001114121 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
XM_017017146 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001114122 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001274 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644221_125644223delCATinsTAA c.1054_1056delCATinsTAA p.H352* 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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