Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Arg521Lys (p.R521K)
(
ENST00000342916.7,
ENST00000344576.7,
ENST00000275493.7,
ENST00000455089.5,
ENST00000450046.2 )
EGFR p.Arg521Thr (p.R521T) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Met (p.R521M) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Lys (p.R521K) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Thr (p.R521T) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Met (p.R521M) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Tumor Progression
- Source Database
- DisGeNET
- Description
- The common EGFR-R521K genotype (G/G) was significantly associated with increased skin toxicity (P = 0.024) and showed a trend toward reduced risk of tumor progression (hazard ratio, 0.55; 95% confidence interval, 0.27-1.08; P = 0.08), whereas no correlation of the EGFR-R521K genotype with OS could be observed (P = 0.20).
- Pubmed
- 20028750
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0257869778476288
- Year of publication
- 2010
Drugs