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Gene MSH6
Variant A587P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MSH6 A587P lies within the connector domain of the Msh6 protein (PMID: 17531815). A587P (corresponding to A586P in mouse) results in deficient mismatch repair activity in a functional screen in mouse cells, decreased Msh6 expression, increased microsatellite instability as indicated by elevated slippage rate, and increased methylation-damage-induced mutagenesis in cultured cells (PMID: 28531214).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 A587P

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Transcript NM_000179.3
gDNA chr2:g.47799742G>C
cDNA c.1759G>C
Protein p.A587P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406800.1 chr2:g.47799742G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47799646G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799742G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799742G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799742G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799742G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799742G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799742G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799742G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47799646G>C c.1759G>C p.A587P RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799742G>C c.1759G>C p.A587P 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

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  • 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 Protein Effect Treatment Approaches
MSH6 A587P loss of function