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Gene | CHEK2 |
Variant | A237T |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CHEK2 A237T lies within the protein kinase domain of the Chek2 protein (UniProt.org). A237T leads to a loss of growth inhibition in response to DNA damage (PMID: 33606978), and therefore, is predicted to lead to a loss of Chek2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 inact mut CHEK2 A237T |
Transcript | NM_007194.4 |
gDNA | chr22:g.28711992C>T |
cDNA | c.709G>A |
Protein | p.A237T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_145862.2 | chr22:g.28711992C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28711992C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28711992C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
XM_011529842.3 | chr22:g.28703533C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28711992C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CHEK2 A237T | loss of function - predicted | Olaparib |