Gene Variant Detail

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Gene STAG2
Variant E1107*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions STAG2 E1107* results in a premature truncation of the Stag2 protein at amino acid 1107 of 1231 (UniProt.org). E1107* has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Mar 2020).
Associated Drug Resistance

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Transcript NM_001282418
gDNA chrX:g.124090616G>T
cDNA c.3319G>T
Protein p.E1107*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006603 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_005262361 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_017029234 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_017029232 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
NM_001282418 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_017029233 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_005262359 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_017029235 chrX:g.124090912G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
NM_001042751 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_011531253 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_005262360 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
NM_001042749 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_005262357 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_005262358 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_006724727 chrX:g.124090616G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
XM_006724728 chrX:g.124090912G>T c.3319G>T p.E1107* RefSeq GRCh38/hg38
NM_001042750 chrX:g.124090616G>T c.3319G>T p.E1107* 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 )
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  • 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
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 E1107* unknown