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Gene MLH1
Variant P648S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 P648S lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). P648S results in decreased Mlh1 protein expression in cell culture (PMID: 21120944, PMID: 16083711), and reduced Pms2 binding in an in vitro assay (PMID: 16724012), but demonstrates proficient mismatch repair activity in in vitro assays (PMID: 21120944, PMID: 16083711, PMID: 15139004), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 P648S

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Transcript NM_000249.4
gDNA chr3:g.37048562C>T
cDNA c.1942C>T
Protein p.P648S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048562C>T c.1942C>T p.P648S RefSeq GRCh38/hg38
NM_000249 chr3:g.37048562C>T c.1942C>T p.P648S RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37048562C>T c.1942C>T p.P648S RefSeq GRCh38/hg38

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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 )
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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