MLH1 K618A
Gene Variant Detail

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Gene MLH1
Variant K618A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 K618A lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of K618A is conflicting, as it results in mismatch repair activity similar to wild-type Mlh1 in in vitro assays (PMID: 16083711, PMID: 20020535, PMID: 21120944) and stable microsatellites (PMID: 36054288), but has also been reported to have reduced binding to Pms2 (PMID: 10037723), reduced Pms2 and Mlh1 expression (PMID: 36054288), decreased mismatch repair activity in culture (PMID: 31784484), and to cause reduced cell line viability (PMID: 16982745).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 K618A

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Transcript NM_000249.4
gDNA chr3:g.37047639_37047640delAAinsGC
cDNA c.1852_1853delAAinsGC
Protein p.K618A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047639_37047640delAAinsGC c.1852_1853delAAinsGC p.K618A 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