FTO c.700_701delinsCC ;(p.E234P)

Variant ID: 16-53860352-GA-CC

NM_001080432.2(FTO):c.700_701delinsCC;(p.E234P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive mutations analyses of FTO (fat mass and obesity-associated gene) and their effects on FTO's substrate binding implicated in obesity.

Frontiers In Nutrition
Kumar, Rakesh R; Ningombam, Somorjit Singh SS; Kumar, Rahul R; Goel, Harsh H; Gogia, Ajay A; Khurana, Sachin S; Deo, S V S SVS; Mathur, Sandeep S; Tanwar, Pranay P
Publication Date: 2022

Variant appearance in text: FTO: E234P
PubMed Link: 35923209
Variant Present in the following documents:
  • Main text
  • fnut-09-852944.pdf
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Structural insights into FTO's catalytic mechanism for the demethylation of multiple RNA substrates.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Xiao X; Wei, Lian-Huan LH; Wang, Yuxin Y; Xiao, Yu Y; Liu, Jun J; Zhang, Wei W; Yan, Ning N; Amu, Gubu G; Tang, Xinjing X; Zhang, Liang L; Jia, Guifang G
Publication Date: 2019-02-19

Variant appearance in text: FTO: E234P
PubMed Link: 30718435
Variant Present in the following documents:
  • Main text
  • pnas.201820574.pdf
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Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.

The Journal Of Clinical Endocrinology And Metabolism
Howard, Sasha R SR; Guasti, Leonardo L; Poliandri, Ariel A; David, Alessia A; Cabrera, Claudia P CP; Barnes, Michael R MR; Wehkalampi, Karoliina K; O'Rahilly, Stephen S; Aiken, Catherine E CE; Coll, Anthony P AP; Ma, Marcella M; Rimmington, Debra D; Yeo, Giles S H GSH; Dunkel, Leo L
Publication Date: 2018-02-01

Variant appearance in text: FTO: E234P
PubMed Link: 29161441
Variant Present in the following documents:
  • jc.2017-02147.sd1.pdf
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Structure of human RNA N⁶-methyladenine demethylase ALKBH5 provides insights into its mechanisms of nucleic acid recognition and demethylation.

Nucleic Acids Research
Aik, WeiShen W; Scotti, John S JS; Choi, Hwanho H; Gong, Lingzhi L; Demetriades, Marina M; Schofield, Christopher J CJ; McDonough, Michael A MA
Publication Date: 2014-04

Variant appearance in text: FTO: Glu234Pro
PubMed Link: 24489119
Variant Present in the following documents:
  • Main text
  • gku085.pdf
View BVdb publication page