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 |
----------------------------------
Type: Missense_Mutation