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Gene MSH6
Variant D530Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 D530Y lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D530Y has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 D530Y

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Transcript NM_000179.3
gDNA chr2:g.47799571G>T
cDNA c.1588G>T
Protein p.D530Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_000179 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
XM_011532799 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
XM_024452821.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799571G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47799868G>T c.1588G>T p.D530Y RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47799868G>T c.1588G>T p.D530Y 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries