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Gene MLH1
Variant E37K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 E37K lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E37K results in a loss of mismatch repair activity (MMR) in an in vitro assay (PMID: 20020535), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 E37K

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Transcript NM_000249.4
gDNA chr3:g.36993656G>A
cDNA c.109G>A
Protein p.E37K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.1 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_001258271 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_000249 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
XM_005265161 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36993656G>A c.109G>A p.E37K RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36993656G>A c.109G>A p.E37K 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 Protein Effect Treatment Approaches
MLH1 E37K loss of function - predicted