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 | T82A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 T82A lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). T82A confers a loss of function to the Mlh1 protein as demonstrated by deficient mismatch repair activity in in vitro assays (PMID: 22736432) and in cultured cells (PMID: 31881334). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 T82A |
Transcript | NM_000249.4 |
gDNA | chr3:g.37000991A>G |
cDNA | c.244A>G |
Protein | p.T82A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.37000991A>G | c.244A>G | p.T82A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|