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Gene | MLH1 |
Variant | M587V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 M587V lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (UniProt.org). M587V has been identified in sequencing studies (PMID: 18206535), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 M587V |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047546A>G |
cDNA | c.1759A>G |
Protein | p.M587V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354628.2 | chr3:g.37047546A>G | c.1759A>G | p.M587V | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37047546A>G | c.1759A>G | p.M587V | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37047546A>G | c.1759A>G | p.M587V | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37047546A>G | c.1759A>G | p.M587V | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37047546A>G | c.1759A>G | p.M587V | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37047546A>G | c.1759A>G | p.M587V | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37047546A>G | c.1759A>G | p.M587V | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37047546A>G | c.1759A>G | p.M587V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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