Gene Variant Detail

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Gene STAG2
Variant K1083*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions STAG2 K1083* results in a premature truncation of the Stag2 protein at amino acid 1083 of 1231 (UniProt.org). K1083* is associated with decreased Stag2 protein expression in patient cells, results in decreased Ctcf binding to DUSP6 promoter region and decreased Dusp6 expression 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.124086740A>T
cDNA c.3247A>T
Protein p.K1083*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001042749 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_006724727 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
NM_001042750 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_005262357 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_005262359 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_017029234 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_005262360 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
NM_001042751 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_017029233 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_005262361 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_017029232 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_005262358 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
NM_001282418 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
XM_011531253 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38
NM_006603 chrX:g.124086740A>T c.3247A>T p.K1083* RefSeq GRCh38/hg38

Filtering

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  • 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 K1083* 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 K1083* 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 K1083* loss of function
BRAF V600E STAG2 K1083*