MSH2 E226*
Gene Variant Detail

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Gene MSH2
Variant E226*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH2 E226* results in a premature truncation of the Msh2 protein at amino acid 226 of 934 (UniProt.org). E226* has not been characterized however, due to the loss of the ATPase domain (PMID: 17531815, PMID: 23391514), is predicted to lead to a loss of Msh2 protein function.
Associated Drug Resistance
Category Variants Paths

MSH2 mutant MSH2 inact mut MSH2 E226*

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Transcript NM_000251.3
gDNA chr2:g.47412444G>T
cDNA c.676G>T
Protein p.E226*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406649.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406657.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406639.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406641.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406635.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406636.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406633.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406632.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406652.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406651.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406640.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406645.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406631.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
XM_047444416.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406638.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406672.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406647.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406674.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406655.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406634.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406650.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406643.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406637.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406648.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406642.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_000251.3 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406646.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406666.1 chr2:g.47412444G>T c.676G>T p.E226* RefSeq GRCh38/hg38
NM_001406644.1 chr2:g.47412444G>T c.676G>T p.E226* 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References