RET c.2994T>G ;(p.F998L)

Variant ID: 10-43620385-T-G

NM_020975.4(RET):c.2994T>G;(p.F998L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: RET: F998L
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: RET: F998L
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: RET: F998L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: F998L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease.

Plos One
Jiang, Qian Q; Ho, Yen-Yi YY; Hao, Li L; Nichols Berrios, Courtney C; Chakravarti, Aravinda A
Publication Date: 2011

Variant appearance in text: RET: F998L
PubMed Link: 21712996
Variant Present in the following documents:
  • Main text
  • pone.0021219.pdf
View BVdb publication page