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Gene PMS2
Variant D70N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PMS2 D70N does not lie within any known functional domains of the Pms2 protein (UniProt.org). D70N results in reduced mismatch repair (MMR) activity in an in vitro assay (PMID: 23709753), and therefore, is predicted to lead to a loss of Pms2 protein function.
Associated Drug Resistance
Category Variants Paths

PMS2 mutant PMS2 inact mut PMS2 D70N

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Transcript NM_000535.7
gDNA chr7:g.6004014C>T
cDNA c.208G>A
Protein p.D70N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322013.2 chr7:g.5997348C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406869.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001322013 chr7:g.5997348C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406885.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406912.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001322014.2 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406874.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001322013.1 chr7:g.5997348C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406873.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001322006.2 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406868.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406870.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001322006.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001322014.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
XM_047420482.1 chr7:g.6005892C>T c.208G>A p.D70N RefSeq GRCh38/hg38
XM_047420484.1 chr7:g.6005892C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406886.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406871.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406909.1 chr7:g.5997348C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001322006 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001322014 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_000535.7 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406872.1 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_000535 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_000535.6 chr7:g.6004014C>T c.208G>A p.D70N RefSeq GRCh38/hg38
NM_001406884.1 chr7:g.6004014C>T c.208G>A p.D70N 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References