IGF1R c.1528_1529delinsGC ;(p.H510A)

Variant ID: 15-99454609-CA-GC

NM_000875.3(IGF1R):c.1528_1529delinsGC;(p.H510A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


POU2F3 is a master regulator of a tuft cell-like variant of small cell lung cancer.

Genes & Development
Huang, Yu-Han YH; Klingbeil, Olaf O; He, Xue-Yan XY; Wu, Xiaoli S XS; Arun, Gayatri G; Lu, Bin B; Somerville, Tim D D TDD; Milazzo, Joseph P JP; Wilkinson, John E JE; Demerdash, Osama E OE; Spector, David L DL; Egeblad, Mikala M; Shi, Junwei J; Vakoc, Christopher R CR
Publication Date: 2018-07-01

Variant appearance in text: IGF1R: H510A
PubMed Link: 29945888
Variant Present in the following documents:
  • Main text
  • 915.pdf
View BVdb publication page



Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors.

Nature Communications
Martin-Trujillo, Alex A; Vidal, Enrique E; Monteagudo-Sánchez, Ana A; Sanchez-Delgado, Marta M; Moran, Sebastian S; Hernandez Mora, Jose Ramon JR; Heyn, Holger H; Guitart, Miriam M; Esteller, Manel M; Monk, David D
Publication Date: 2017-09-07

Variant appearance in text: IGF1R: H510A
PubMed Link: 28883545
Variant Present in the following documents:
  • 41467_2017_639_MOESM1_ESM.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: IGF1R: H510A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page