CHEK2 R382*
Gene Variant Detail

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Gene CHEK2
Variant R382*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 R382* results in a premature truncation of the Chek2 protein at amino acid 382 of 543 (UniProt.org). R382* has not been characterized, however, due to the effects of other truncation mutations downstream of R382 resulting in disruption of the protein kinase domain (PMID: 11053450), is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R382*

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Transcript NM_007194.4
gDNA chr22:g.28695825T>A
cDNA c.1144A>T
Protein p.R382*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28695825T>A c.1144A>T p.R382* RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695825T>A c.1144A>T p.R382* RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28695751_28695753delCGTinsTGA c.1144_1146delCGTinsTGA p.R382* RefSeq GRCh38/hg38

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