MLH1 K618T - Gene Variant Detail

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Gene MLH1
Variant K618T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 K618T lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of K618T is conflicting, as it has been shown to have mismatch repair activity and Pms2 binding similar to wild-type Mlh1 (PMID: 16083711, PMID: 22753075, PMID: 21120944), but has also been shown to have significantly reduced binding to Pms2 in in vitro assays (PMID: 10037723), and decreases MLH1 foci and chromosomal crossover during meiosis resulting in increased aneuploidy in a mouse model (PMID: 34408140), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 K618T

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Transcript NM_000249.4
gDNA chr3:g.37047640A>C
cDNA c.1853A>C
Protein p.K618T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_000249 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047640A>C c.1853A>C p.K618T 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