MSH6 R1334Q
Gene Variant Detail

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Gene MSH6
Variant R1334Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MSH6 R1334Q lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1334Q (corresponding to R1332Q 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 R1334Q

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Transcript NM_000179.3
gDNA chr2:g.47806651G>A
cDNA c.4001G>A
Protein p.R1334Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.47806651G>A c.4001G>A p.R1334Q RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806651G>A c.4001G>A p.R1334Q RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806651G>A c.4001G>A p.R1334Q RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806651G>A c.4001G>A p.R1334Q RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806651_47806784delGTinsAA c.4001_4002delGTinsAA p.R1334Q 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
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries