Gene Variant Detail

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Gene CHEK1
Variant R379*
Impact List nonsense
Protein Effect gain of function - predicted
Gene Variant Descriptions CHEK1 R379* results in a premature truncation of the Chek1 protein at amino acid 379 of 476 (UniProt.org). R379* has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of R379 (PMID: 14681223), is predicted to lead to a gain of Chek1 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 act mut CHEK1 R379*

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Transcript NM_001114121.2
gDNA chr11:g.125644545C>T
cDNA c.1135C>T
Protein p.R379*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024448337.1 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries