Gene Variant Detail

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Gene SMC3
Variant L210P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions SMC3 L210P lies within the coiled-coil domain of the Smc3 protein (UniProt.org). L210P likely confers confers loss of function to the Smc3 protein as demonstrated in yeast, by loss of ability to support cell growth and sister chromatid cohesion, inhibition of cohesin loading onto chromosomes, and altered conformation of the Smc3 protein (PMID: 27307603).
Associated Drug Resistance

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Transcript NM_005445
gDNA chr10:g.110582004T>C
cDNA c.629T>C
Protein p.L210P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005445 chr10:g.110582004T>C c.629T>C p.L210P 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 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 L210P loss of function - predicted