MLH1 V384D
Gene Variant Detail

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Gene MLH1
Variant V384D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 V384D does not lie within any known functional domains of the Mlh1 protein (UniProt.org). V384D confers a loss of function to Mlh1, as indicated by decreased binding to Pms2 (PMID: 27173243, PMID: 18094436) and reduced MMR activity in in vitro assays (PMID: 17510385).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 V384D

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Transcript NM_000249.4
gDNA chr3:g.37025749T>A
cDNA c.1151T>A
Protein p.V384D
Source Database RefSeq
Genome Build 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.