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Gene MSH6
Variant R1331P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 R1331P lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1331P results in subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 R1331P

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Transcript NM_000179.3
gDNA chr2:g.47806642G>C
cDNA c.3992G>C
Protein p.R1331P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.47806642G>C c.3992G>C p.R1331P RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806642G>C c.3992G>C p.R1331P RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806642G>C c.3992G>C p.R1331P RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806642G>C c.3992G>C p.R1331P RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806642G>C c.3992G>C p.R1331P 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
  • 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