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 | S106R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 S106R lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). S106R results in reduced methylation sensitivity in culture (PMID: 30998989), 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 S106R |
Transcript | NM_000249.4 |
gDNA | chr3:g.37004412C>G |
cDNA | c.318C>G |
Protein | p.S106R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37004412C>G | c.318C>G | p.S106R | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37004412C>G | c.318C>G | p.S106R | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37004412C>G | c.318C>G | p.S106R | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37004412C>G | c.318C>G | p.S106R | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37004412C>G | c.318C>G | p.S106R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 S106R | loss of function - predicted |