Gene Variant Detail

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Gene MLH1
Variant K84E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 K84E lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). K84E confers a loss of function to the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in in vitro assays (PMID: 16083711, PMID: 21120944) and in cultutred cells (PMID: 31784484).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 K84E

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Transcript NM_000249.4
gDNA chr3:g.37000997A>G
cDNA c.250A>G
Protein p.K84E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
XM_005265161 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
NM_001258271 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
NM_000249 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37000997A>G c.250A>G p.K84E RefSeq GRCh38/hg38

Filtering

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Sorting

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