Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | MLH1 |
Variant | Q48P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 Q48P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). Q48P results in loss of Mlh1 expression and is associated with microsatellite instability in patient samples (PMID: 22395473) and loss of Mlh1 expression in cultured cells and reduced interaction with Pms2 in a yeast-two-hybrid assay (PMID: 21404117), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 Q48P |
Transcript | NM_000249.4 |
gDNA | chr3:g.36996645A>C |
cDNA | c.143A>C |
Protein | p.Q48P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354629.2 | chr3:g.36996645A>C | c.143A>C | p.Q48P | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.36996645A>C | c.143A>C | p.Q48P | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.36996645A>C | c.143A>C | p.Q48P | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.36996645A>C | c.143A>C | p.Q48P | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.36996645A>C | c.143A>C | p.Q48P | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.36996645A>C | c.143A>C | p.Q48P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|