Gene Variant Detail

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Gene SMC3
Variant Y43Mfs*69
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMC3 Y43Mfs*69 indicates a shift in the reading frame starting at amino acid 43 and terminating 69 residues downstream causing a premature truncation of the 1217 amino acid Smc3 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Y43Mfs*69 is predicted to lead to a loss of Smc3 protein function.
Associated Drug Resistance

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Transcript NM_005445
gDNA chr10:g.110573742delT
cDNA c.127delT
Protein p.Y43Mfs*69
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005445 chr10:g.110573742delT c.127delT p.Y43Mfs*69 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
SMC3 Y43Mfs*69 loss of function - predicted