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Gene MLH1
Variant S556N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 S556N lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). S556N results in altered splicing (PMID: 15300854), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 S556N

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Transcript NM_000249.4
gDNA chr3:g.37040294G>A
cDNA c.1667G>A
Protein p.S556N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37040294G>A c.1667G>A p.S556N RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37040294G>A c.1667G>A p.S556N RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37040294G>A c.1667G>A p.S556N RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37040294G>A c.1667G>A p.S556N RefSeq GRCh38/hg38

Filtering

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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 )
  • 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