MSH6 G141D - Gene Variant Detail

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Gene MSH6
Variant G141D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 G141D lies within the PWWP domain of the Msh6 protein (UniProt.org). G141D has been identified in sequencing studies (PMID: 30545397), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 G141D

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Transcript NM_000179.3
gDNA chr2:g.47791088G>A
cDNA c.422G>A
Protein p.G141D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406813.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001281493 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001281494.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001406812.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_001406816.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_001281494 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001406829.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_001406815.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_001406814.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001406823.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_000179 chr2:g.47791088G>A c.422G>A p.G141D RefSeq GRCh38/hg38
NM_001281494.2 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
XM_024452822.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_001281493.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_001281493.2 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D RefSeq GRCh38/hg38
NM_001406811.1 chr2:g.47799311_47799312delGAinsAC c.422_423delGAinsAC p.G141D 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