Gene Variant Detail

Contact

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 Q542L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 Q542L lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). Q542L maintains interaction with Pms2 (PMID: 12810663), but results in reduced Pms2 and Mlh1 expression (PMID: 36054288) and decreased mismatch repair activity in an in vitro assay (PMID: 17510385) and in cell culture (PMID: 31784484, PMID: 36054288).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 Q542L

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
  • 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.

Transcript NM_000249.4
gDNA chr3:g.37040252A>T
cDNA c.1625A>T
Protein p.Q542L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_000249 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001258271 chr3:g.37040252A>T c.1625A>T p.Q542L RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37040252A>T c.1625A>T p.Q542L 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
  • 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