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 D41H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 D41H lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). D41H results in stable expression of Mlh1, Pms2, Msh2, and Msh6 in patient samples (PMID: 25060679) and variable expression in culture (PMID: 36054288, PMID: 25060679, PMID: 23403630) but leads to loss of mismatch repair activity in in vitro assays (PMID: 23403630, PMID: 25060679), loss of DNA damage response signaling (PMID: 36054288), and microsatellite instability in patient samples (PMID: 25060679).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 D41H

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.36996623G>C
cDNA c.121G>C
Protein p.D41H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.2 chr3:g.36996623G>C c.121G>C p.D41H RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36996623G>C c.121G>C p.D41H RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36996623G>C c.121G>C p.D41H RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36996623G>C c.121G>C p.D41H RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36996623G>C c.121G>C p.D41H RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36996623G>C c.121G>C p.D41H 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