Gene Variant Detail

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Gene MSH6
Variant R128L
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 R128L lies within the PWWP domain of the Msh6 protein (UniProt.org). R128L results in dimerization with Msh2 similar to wild-type Msh6 in cultured cells and complements mismatch repair activity in Msh6-deficient cells (PMID: 15354210), and therefore, is predicted to have no effect on Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 R128L

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Transcript NM_000179.3
gDNA chr2:g.47791049G>T
cDNA c.383G>T
Protein p.R128L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406798.1 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47791049G>T c.383G>T p.R128L RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47791049G>T c.383G>T p.R128L 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries