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 | G101V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 G101V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). G101V results in defective mismatch repair (MMR) activity in a functional screen in cultured mouse cells (PMID: 31784484), decreased MMR activity in a yeast assay, and defective binding with Pms2 (PMID: 21404117). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 G101V |
Transcript | NM_000249.4 |
gDNA | chr3:g.37001049G>T |
cDNA | c.302G>T |
Protein | p.G101V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37001049G>T | c.302G>T | p.G101V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|