MLH1 Q542L
Gene Variant Detail

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Gene MLH1
Variant Q542L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 Q542L lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). Q542L maintains interaction with Pms2 (PMID: 12810663), but results in reduced Pms2 and Mlh1 expression (PMID: 36054288) and decreased mismatch repair activity in an in vitro assay (PMID: 17510385) and in cell culture (PMID: 31784484, PMID: 36054288).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 Q542L

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Transcript NM_000249.4
gDNA chr3:g.37040252A>T
cDNA c.1625A>T
Protein p.Q542L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001258271 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_000249 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References