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Gene | MLH1 |
Variant | D737V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 D737V lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). D737V has been identified in sequencing studies (PMID: 23760103), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 D737V |
Transcript | NM_000249.4 |
gDNA | chr3:g.37050592A>T |
cDNA | c.2210A>T |
Protein | p.D737V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37050592A>T | c.2210A>T | p.D737V | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37050592A>T | c.2210A>T | p.D737V | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37050592A>T | c.2210A>T | p.D737V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 D737V | unknown |