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 R725C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 R725C lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R725C demonstrates binding to Pms2 similar to wild-type Mlh1 in yeast assays (PMID: 22252508), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 R725C

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.37050555C>T
cDNA c.2173C>T
Protein p.R725C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37050555C>T c.2173C>T p.R725C RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37050555C>T c.2173C>T p.R725C RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37050555C>T c.2173C>T p.R725C 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