Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene STAG2
Variant C308R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions STAG2 C308R lies within the SCD domain of the Stag2 protein (UniProt.org). C308R has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Mar 2020).
Associated Drug Resistance

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.

Transcript NM_001282418
gDNA chrX:g.124050214T>C
cDNA c.922T>C
Protein p.C308R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005262358 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
XM_011531253 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
NM_001282418 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
XM_005262357 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
XM_005262361 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
NM_001042751 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
XM_017029234 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
XM_005262360 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
NM_001042750 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
XM_017029233 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
XM_006724727 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
NM_001042749 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
XM_017029232 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
NM_006603 chrX:g.124050214T>C c.922T>C p.C308R RefSeq GRCh38/hg38
XM_005262359 chrX:g.124050214T>C c.922T>C p.C308R 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
STAG2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic STAG2 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
STAG2 C308R unknown