FTO c.1445C>T ;(p.S482L)

Variant ID: 16-54145754-C-T

NM_001080432.2(FTO):c.1445C>T;(p.S482L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.

Hgg Advances
Zieger, Hanna K HK; Weinhold, Leonie L; Schmidt, Axel A; Holtgrewe, Manuel M; Juranek, Stefan A SA; Siewert, Anna A; Scheer, Annika B AB; Thieme, Frederic F; Mangold, Elisabeth E; Ishorst, Nina N; Brand, Fabian U FU; Welzenbach, Julia J; Beule, Dieter D; Paeschke, Katrin K; Krawitz, Peter M PM; Ludwig, Kerstin U KU
Publication Date: 2023-01-12

Variant appearance in text: FTO: S482L
PubMed Link: 36589413
Variant Present in the following documents:
  • mmc2.xlsx, sheet 5
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: FTO: 1445C>T; Ser482Leu
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: FTO: 1445C>T; S482L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Multiomics profile and prognostic gene signature of m6A regulators in uterine corpus endometrial carcinoma.

Journal Of Cancer
Wang, Yizi Y; Ren, Fang F; Song, Zixuan Z; Wang, Xiaoying X; Ma, Xiaoxin X
Publication Date: 2020

Variant appearance in text: FTO: S482L
PubMed Link: 33033522
Variant Present in the following documents:
  • jcav11p6390s2.xlsx, sheet 2
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: FTO: S482L
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 24
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: FTO: S482L
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: FTO: S482L
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 1
View BVdb publication page



Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.

Plos One
Zheng, Zhaojing Z; Hong, Li L; Huang, Xiaodong X; Yang, Peirong P; Li, Juan J; Ding, Yu Y; Yao, Ru-En RE; Geng, Juan J; Shen, Yongnian Y; Shen, Yiping Y; Fu, Qihua Q; Yu, Yongguo Y
Publication Date: 2013

Variant appearance in text: FTO: S482L
PubMed Link: 23825611
Variant Present in the following documents:
  • Main text
  • pone.0067039.pdf
View BVdb publication page