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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

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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_001354628.1 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_000249.4 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_001258271.2 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
NM_001258271 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

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 Protein Effect Treatment Approaches
MLH1 L622H unknown