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| Gene | CHEK2 |
| Variant | L355P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CHEK2 L355P lies within the protein kinase domain of the Chek2 protein (UniProt.org). L355P has been identified in sequencing studies (PMID: 18186519, PMID: 17145815), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
CHEK2 mutant CHEK2 L355P |
| Transcript | NM_007194.4 |
| gDNA | chr22:g.28696932A>G |
| cDNA | c.1064T>C |
| Protein | p.L355P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_145862.2 | chr22:g.28695818_28695819delTTinsCC | c.1063_1064delTTinsCC | p.L355P | RefSeq | GRCh38/hg38 |
| NM_007194.4 | chr22:g.28696932A>G | c.1064T>C | p.L355P | RefSeq | GRCh38/hg38 |
| NM_007194 | chr22:g.28696932A>G | c.1064T>C | p.L355P | RefSeq | GRCh38/hg38 |
| NM_145862 | chr22:g.28695818_28695819delAAinsGG | c.1063_1064delTTinsCC | p.L355P | RefSeq | GRCh38/hg38 |
| NM_007194.3 | chr22:g.28696932A>G | c.1064T>C | p.L355P | RefSeq | GRCh38/hg38 |
| NM_145862.2 | chr22:g.28695818_28695819delTTinsCC | c.1063_1064delTTinsCC | p.L355P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| CHEK2 L355P | unknown |