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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

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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 chr3:g.37050642G>C c.2260G>C p.E754Q RefSeq GRCh38/hg38
NM_000249.3 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References