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Gene MLH1
Variant G532C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 G532C lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). G532C has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 G532C

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Transcript NM_000249.4
gDNA chr3:g.37040221G>T
cDNA c.1594G>T
Protein p.G532C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.3 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38
NM_000249 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38
NM_001258271 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37040221G>T c.1594G>T p.G532C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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