RET c.2432C>T ;(p.S811F)

Variant ID: 10-43615018-C-T

NM_020975.4(RET):c.2432C>T;(p.S811F)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Mice Are Not Small Furry People! A New Hirschsprung Disease Model Lets Us Pretend This Is Not True.

Cellular And Molecular Gastroenterology And Hepatology
Heuckeroth, Robert O RO
Publication Date: 2023-03-13

Variant appearance in text: RET: S811F
PubMed Link: 36924799
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Pathological and clinical characteristics of late-onset oligomeganephronia based on a histomorphometric study.

Bmc Nephrology
Ren, Ya-Li YL; Li, Yang Y; Gao, Jie J; Zhou, Xu-Jie XJ; Yang, Li L; Wang, Su-Xia SX
Publication Date: 2023-03-15

Variant appearance in text: RET: S811F
PubMed Link: 36922764
Variant Present in the following documents:
  • 12882_2023_Article_3096.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: RET: S811F
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: RET: S811F
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Oncotarget
Gudernova, Iva I; Balek, Lukas L; Varecha, Miroslav M; Kucerova, Jana Fialova JF; Kunova Bosakova, Michaela M; Fafilek, Bohumil B; Palusova, Veronika V; Uldrijan, Stjepan S; Trantirek, Lukas L; Krejci, Pavel P
Publication Date: 2017-12-12

Variant appearance in text: RET: S811F
PubMed Link: 29312610
Variant Present in the following documents:
View BVdb publication page



Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report.

Bmc Nephrology
Sugimoto, Keisuke K; Miyazawa, Tomoki T; Nishi, Hitomi H; Miyazaki, Kohei K; Enya, Takuji T; Okada, Mitsuru M; Takemura, Tsukasa T
Publication Date: 2016-10-07

Variant appearance in text: RET: S811F
PubMed Link: 27717313
Variant Present in the following documents:
  • Main text
  • 12882_2016_Article_354.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: RET: 2432C>T; S811F
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page