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Gene MLH1
Variant R9W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 R9W lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R9W results in stable expression of Pms2 and Mlh1 and mismatch repair (MMR) activity comparable to wild-type in culture in one study (PMID: 36054288), but in others demonstrates defective MMR activity in a functional screen in cultured mouse cells (PMID: 31784484), intermediate MMR activity in an in vitro assay, and decreased Mlh1 and Pms2 expression in cultured cells (PMID: 22736432), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R9W

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Transcript NM_000249.4
gDNA chr3:g.36993572C>T
cDNA c.25C>T
Protein p.R9W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36993572C>T c.25C>T p.R9W RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References