Gene Variant Detail

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Gene MSH6
Variant T1219I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MSH6 T1219I does not lie within any known functional domains of the Msh6 protein (UniProt.org). T1219I results in a loss of Msh6 protein function, as indicated by loss of mismatch induced conformational changes and defective DNA mismatch repair (PMID: 22277660)
Associated Drug Resistance

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Transcript NM_000179
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_000179 chr2:g.47806213C>T c.3656C>T p.T1219I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Protein Effect Treatment Approaches
MSH6 T1219I loss of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MSH6 T1219I glioblastoma multiforme 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