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Gene | MLH1 |
Variant | L622H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 L622H lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L622H results in decreased Mlh1 protein stability and expression (PMID: 23403630, PMID: 20858721, PMID: 31881334), and demonstrates both proficient mismatch repair (MMR) activity in some assays (PMID: 17510385, PMID: 23403630), and deficient MMR activity (PMID: 31881334), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 L622H |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047652T>A |
cDNA | c.1865T>A |
Protein | p.L622H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.37047652T>A | c.1865T>A | p.L622H | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37047652T>A | c.1865T>A | p.L622H | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37047652T>A | c.1865T>A | p.L622H | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37047652T>A | c.1865T>A | p.L622H | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37047652T>A | c.1865T>A | p.L622H | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37047652T>A | c.1865T>A | p.L622H | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37047652T>A | c.1865T>A | p.L622H | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37047652T>A | c.1865T>A | p.L622H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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