Gene Variant Detail

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Gene MLH1
Variant R389Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MLH1 R389Q does not lie within any known functional domains of Mlh1 protein (UniProt.org). R389Q results in similar mismatch repair (MMR) activity as wild-type Mlh1 in an in vitro assay (PMID: 17510385), and therefore, is predicted to have no effect on Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R389Q

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Transcript NM_000249.4
gDNA chr3:g.37025764G>A
cDNA c.1166G>A
Protein p.R389Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_000249 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37028834G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001354620.2 chr3:g.37028834G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001167617.3 chr3:g.37028834G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001167617 chr3:g.37028834G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37028834G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37025764G>A c.1166G>A p.R389Q RefSeq GRCh38/hg38

Filtering

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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