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Gene MLH1
Variant V213M
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MLH1 V213M lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). V213M results in decreased Mlh1 and Pms2 expression but demonstrates functional mismatch repair activity in culture (PMID: 36054288) and in in vitro assays, and functional Pms2 interaction in in vitro assays (PMID: 17510385, PMID: 16083711, PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 V213M

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Transcript NM_000249.4
gDNA chr3:g.37012059G>A
cDNA c.637G>A
Protein p.V213M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.1 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
XM_005265161 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_000249 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001258271 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37012059G>A c.637G>A p.V213M RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37012059G>A c.637G>A p.V213M 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries