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Gene | MLH1 |
Variant | R487* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MLH1 R487* results in a premature truncation of the Mlh1 protein at amino acid 487 of 756 (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), R487* is predicted to lead to a loss of Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 R487* |
Transcript | NM_000249.4 |
gDNA | chr3:g.37028833C>T |
cDNA | c.1459C>T |
Protein | p.R487* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37028833C>T | c.1459C>T | p.R487* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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