Gene Variant Detail

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Gene MLH1
Variant Q48E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 Q48E lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). Q48E 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 Q48E

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Transcript NM_000249.4
gDNA chr3:g.36996644C>G
cDNA c.142C>G
Protein p.Q48E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.1 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
XM_005265161 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001167617.3 chr3:g.37007046C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001167617 chr3:g.37007046C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37007046C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001354620.2 chr3:g.37007046C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_000249 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37007046C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001258271 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36996644C>G c.142C>G p.Q48E RefSeq GRCh38/hg38

Filtering

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  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries