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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, Sep 2024). |
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 | 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_007194.4 | 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 |