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Gene MLH1
Variant R265H
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MLH1 R265H lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R265H results in protein expression comparable to wild-type in culture (PMID: 23403630) and mismatch repair activity comparable to wild-type in yeast assays (PMID: 17510385) and in in vitro assays (PMID: 11781295, PMID: 17510385, PMID: 23403630).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R265H

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Transcript NM_000249.4
gDNA chr3:g.37017509G>A
cDNA c.794G>A
Protein p.R265H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37017509G>A c.794G>A p.R265H RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37017509G>A c.794G>A p.R265H RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37017509G>A c.794G>A p.R265H RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37017509G>A c.794G>A p.R265H 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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