Gene Variant Detail

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Gene STAG2
Variant D193N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions STAG2 D193N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D193N confers a loss of function to the Stag2 protein as demonstrated by decreased binding to Rad21 and Smc1a, and loss of Ctcf binding to the DUSP6 promoter region, leading to decreased Dusp6 expression and increased levels of phosphorylated Erk in cultured cells (PMID: 27500726), and is associated with acquired resistance to BRAF inhibitors (PMID: 27500726).
Associated Drug Resistance Y

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Transcript NM_001282418
gDNA chrX:g.124045278G>A
cDNA c.577G>A
Protein p.D193N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282418 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
NM_001042750 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_005262361 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
NM_001042751 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_005262357 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_011531253 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_005262359 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_005262358 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_017029233 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_017029232 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_017029234 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
NM_001042749 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_005262360 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
NM_006603 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38
XM_006724727 chrX:g.124045278G>A c.577G>A p.D193N RefSeq GRCh38/hg38

Filtering

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  • 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"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600E STAG2 D193N melanoma resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, Zelboraf (vemurafenib) failed to inhibit colony formation and reduce Erk activation in a melanoma cell line harboring BRAF V600E that was found to have acquired a STAG2 D193N mutation in culture (PMID: 27500726). 27500726
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 D193N loss of function
BRAF V600E STAG2 D193N