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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 |
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 |
---|---|---|---|---|---|
XM_005265161.3 | 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 |
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_001258271.2 | chr3:g.37008874G>A | c.514G>A | p.E172K | RefSeq | GRCh38/hg38 |
NM_000249 | 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 |
NM_001354628.2 | 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_001354630.2 | 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_001354628.1 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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