chr7:55,208,288 C>G
Missense_Mutation
| Data from | Mutation Assessor |
| Type | Missense_Mutation |
| RG variant | R>G |
| RG var.type | missense |
| AA variant | R680G |
| Gene | EGFR |
| MSA | MSA |
| Func. Impact |
medium
|
| FI score | 3.065 |
| VC score | 3.93 |
| VS score | 2.20 |
| Location | 7p12 |
| Uniprot | EGFR_HUMAN |
| Refseq | NP_005219 |
| gaps in MSA | 0.71 |
| MSA height | 165 |
| Codon start position | chr7:55208288 |
| Uniprot position | 680 |
| Uniprot residue | R |
| Refseq position | 680 |
| Refseq residue | R |
| OG | 1 |
| N.Cosmic | 182 |
| N.SNPs | 36 |
| mutations in COSMIC@position | p.R680G |
| cancer types in COSMIC@position | astrocytoma_Grade_IV |
| gene's known role in cancer | Cancer Cell Map Pathway :: Alpha6Beta4 Integrin /// Cancer Cell Map Pathway :: EGFR1 /// Cancer Review :: Futreal et al 2004 /// Cancer Review :: Vogelstein and Kinzler 2004 /// Entrez Query :: Oncogene /// Entrez Query :: Stability /// Entrez Query :: Tyrosine Kinase |
| regions@position | TOPO_DOM // 669 // 1210 // Cytoplasmic (Potential). |
| domains | Furin-like cysteine rich region /// Receptor L domain /// Protein tyrosine kinase |
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Type: Missense_Mutation