chr17:39711955:> Detail (hg38) (ERBB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:37,868,208-37,868,208 |
| hg38 | chr17:39,711,955-39,711,955 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| colon cancer | Neratinib,Lapatinib,Trastuzumab | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 26243863 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Colon cancer patient derived xenografts with HER2 mutations are sensitive to HER2 targeted drugs and... | 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
- chr17:39,711,955-39,711,955
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- S310F/Y
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/497
- Summary (CIViC Variant)
- ERBB2 S310F/Y was one of the first ERBB2 variants to be functionally classified (Greulich et al. 2012). This mutation was shown to be an activating mutation (through hyperphosphorylation) in an in vitro assay. In the same paper, this mutation (along with other ERBB2 activating mutations) in murine Ba/F3 cells have been shown to be sensitive to the ERBB2 inhibitors (afatinib, lapatinib and neratinib). More recent evidence may show that HER2 acitivating mutations confer sensitivity to a host of tyrosine kinase inhibitors, which is the topic of current clinical trials and research.
Genome browser