MSH6 T1219I
Gene Variant Detail

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Gene MSH6
Variant T1219I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MSH6 T1219I lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1219I results in a loss of Msh6 protein function, as indicated by loss of mismatch-induced conformational changes and defective DNA mismatch repair activity in in vitro assays (PMID: 22277660, PMID: 31965077).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 T1219I

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Transcript NM_000179.3
gDNA chr2:g.47806213C>T
cDNA c.3656C>T
Protein p.T1219I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.47806213C>T c.3656C>T p.T1219I RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47806213C>T c.3656C>T p.T1219I RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806213C>T c.3656C>T p.T1219I RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806213C>T c.3656C>T p.T1219I RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806213C>T c.3656C>T p.T1219I RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806213C>T c.3656C>T p.T1219I RefSeq GRCh38/hg38
NM_000179 chr2:g.47806213C>T c.3656C>T p.T1219I RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47806213C>T c.3656C>T p.T1219I 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MSH6 T1219I glioblastoma resistant Temozolomide Preclinical Actionable In a preclinical study, glioblastoma cells harboring a MSH6 T1219I mutation were resistant to Temodar (temozolomide) in cell culture (PMID: 19584161). 19584161