MSH6 L585P - Gene Variant Detail

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Gene MSH6
Variant L585P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 L585P lies within the connector domain of the Msh6 protein (PMID: 17531815). L585P results in decreased Msh6 stability in cultured cells and loss of mismatch repair activity in an in vitro assay (PMID: 22581703), and therefore, is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 L585P

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Transcript NM_000179.3
gDNA chr2:g.47799737T>C
cDNA c.1754T>C
Protein p.L585P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406820.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001281494.2 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406812.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406815.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406811.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406816.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406823.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406814.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001281493.2 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406829.1 chr2:g.47800643T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799737T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47800034T>C c.1754T>C p.L585P RefSeq GRCh38/hg38

Filtering

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