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