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Gene MLH1
Variant S685F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 S685F lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). S685F results in reduced Mlh1 and Pms2 protein expression levels in a patient sample and in cell culture (PMID: 32076465), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 S685F

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Transcript NM_000249.4
gDNA chr3:g.37048968C>T
cDNA c.2054C>T
Protein p.S685F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37048968C>T c.2054C>T p.S685F RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37048968C>T c.2054C>T p.S685F RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37048968C>T c.2054C>T p.S685F RefSeq GRCh38/hg38

Filtering

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  • 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 )
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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