chr12:25245274:> Detail (hg38) (KRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:25,398,208-25,398,329 |
| hg38 | chr12:25,245,274-25,245,395 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| colorectal cancer | Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 27037411 | Detail |
| pancreatic cancer | Gemcitabine,Erlotinib | B |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 21862683 | Detail |
| colorectal cancer | Irinotecan,Selumetinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 1 | 25322874 | Detail |
| colorectal cancer | Cetuximab | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 16618717 | Detail |
| colorectal cancer | Regorafenib | B |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 4 | 24559322 | Detail |
| pancreatic carcinoma | Erlotinib | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 23435671 | Detail |
| pancreatic carcinoma | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 3 | 23435671 | Detail | |
| colorectal cancer | Cetuximab | A |
Predictive
|
Supports
|
Resistance | Somatic | 5 | 18946061 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 102 mCRC patients treated with anti-EGFR therapy were analyzed for 34 hotspot mutations in KRAS, NRA... | CIViC Evidence | Detail |
| In a retrospective study of 136 pancreatic cancer patients, point mutations in KRAS exon 2 were asso... | CIViC Evidence | Detail |
| 31 patients with KRAS exon 2 mutation (codons 12 and 13) were treated with selumetinib and irinoteca... | CIViC Evidence | Detail |
| Patients with colorectal cancer who harbor KRAS mutation have low response rate to cetuximab. | CIViC Evidence | Detail |
| KRAS mutation status was not predictive of response to regorafenib treatment in patients that had re... | CIViC Evidence | Detail |
| KRAS exon 2 was mutated in 121 of 173 (70%) patients with advanced pancreatic cancer and did not sho... | CIViC Evidence | Detail |
| KRAS exon 2 was mutated in 121 of 173 patients with advanced pancreatic cancer. Patients with KRAS w... | CIViC Evidence | Detail |
| KRAS mutation status was assessed in 394 tumor samples from colorectal cancer patients who were rand... | 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
- chr12:25,245,274-25,245,395
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- EXON 2 MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000256078.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/75
- Summary (CIViC Variant)
- Exon 2 mutations have been associated with reduced response rates or resistance to EGFR inhibitors in non-small cell lung and colorectal cancer. The NCCN guidelines for colorectal cancer contain recommendations that the targeted therapies cetuximab and panitumumab should only be used in the context of wild type KRAS.
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