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Gene MLH1
Variant A681T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 A681T lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of A681T is conflicting, as it demonstrates decreased stability resulting in decreased expression of Mlh1 (PMID: 23403630, PMID: 36454741), but has no effect on Mlh1 expression in another study (PMID: 21120944), and demonstrates mismatch repair (MMR) activity similar to wild-type Mlh1 in culture (PMID: 21120944, PMID: 16083711, PMID: 23403630) and intermediate MMR activity in another study (PMID: 31881334), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 A681T

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Transcript NM_000249.4
gDNA chr3:g.37048955G>A
cDNA c.2041G>A
Protein p.A681T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048955G>A c.2041G>A p.A681T RefSeq GRCh38/hg38
NM_000249 chr3:g.37048955G>A c.2041G>A p.A681T RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37048955G>A c.2041G>A p.A681T 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 )
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  • 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