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 | E754Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 E754Q does not lie within any known functional domains of the Mlh1 protein (UniProt.org). E754Q has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 E754Q |
Transcript | NM_000249.4 |
gDNA | chr3:g.37050642G>C |
cDNA | c.2260G>C |
Protein | p.E754Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37050642G>C | c.2260G>C | p.E754Q | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37050642G>C | c.2260G>C | p.E754Q | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37050642G>C | c.2260G>C | p.E754Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|