chr3:128479427:> Detail (hg38) (GATA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:128,198,270-128,212,028 |
| hg38 | chr3:128,479,427-128,493,185 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung adenocarcinoma | Fasudil,Bortezomib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 22541434 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Targeting overactive GATA2-mediated pathways with inhibitors bortezomib and fasudil led to dramatic ... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr3:128,479,427-128,493,185
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- EXPRESSION
- Transcript 1 (CIViC Variant)
- ENST00000341105.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/57
- Summary (CIViC Variant)
- GATA2 misregulation has been observed in a number of hematologic malignancies, as well as non-small cell lung cancer. Treatment of over-active GATA2 pathways using the proteasome inhibitor bortezomib has shown dramatic tumor regression in lung cancer.
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