Gene Variant Detail

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Gene MLH1
Variant E172K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 E172K lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E172K has been identified in the scientific literature (PMID: 27998968, PMID: 37296477), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 E172K

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Transcript NM_000249.4
gDNA chr3:g.37008874G>A
cDNA c.514G>A
Protein p.E172K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
NM_001258271 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
XM_005265161 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37008874G>A c.514G>A p.E172K RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37008874G>A c.514G>A p.E172K 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