FTO c.322_323delinsGC ;(p.Y108A)

Variant ID: 16-53859974-TA-GC

NM_001080432.2(FTO):c.322_323delinsGC;(p.Y108A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A programmable system to methylate and demethylate N6-methyladenosine (m6A) on specific RNA transcripts in mammalian cells.

The Journal Of Biological Chemistry
Chang, Chen C; Ma, Gang G; Cheung, Edwin E; Hutchins, Andrew P AP
Publication Date: 2022-11

Variant appearance in text: FTO: Y108A
PubMed Link: 36162509
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Y108A
PubMed Link: 35923209
Variant Present in the following documents:
  • Main text
  • fnut-09-852944.pdf
View BVdb publication page



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: Y108A
PubMed Link: 29161441
Variant Present in the following documents:
  • jc.2017-02147.sd1.pdf
View BVdb publication page



The atomic resolution structure of human AlkB homolog 7 (ALKBH7), a key protein for programmed necrosis and fat metabolism.

The Journal Of Biological Chemistry
Wang, Guoqiang G; He, Qingzhong Q; Feng, Chong C; Liu, Yang Y; Deng, Zengqin Z; Qi, Xiaoxuan X; Wu, Wei W; Mei, Pinchao P; Chen, Zhongzhou Z
Publication Date: 2014-10-03

Variant appearance in text: FTO: Y108A
PubMed Link: 25122757
Variant Present in the following documents:
  • Main text
View BVdb publication page