FAT2 c.10507-52G>A

Variant ID: 5-150901699-C-T

NM_001447.2(FAT2):c.10507-52G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Identification of Genetic Networks Reveals Complex Associations and Risk Trajectory Linking Mild Cognitive Impairment to Alzheimer's Disease.

Frontiers In Aging Neuroscience
Strafella, Claudia C; Caputo, Valerio V; Termine, Andrea A; Fabrizio, Carlo C; Calvino, Giulia G; Megalizzi, Domenica D; Ruffo, Paola P; Toppi, Elisa E; Banaj, Nerisa N; Bassi, Andrea A; Bossù, Paola P; Caltagirone, Carlo C; Spalletta, Gianfranco G; Giardina, Emiliano E; Cascella, Raffaella R
Publication Date: 2022

Variant appearance in text: rs3734050
PubMed Link: 35250545
Variant Present in the following documents:
  • Main text
  • fnagi-14-821789.pdf
View BVdb publication page



Genetic Determinants Highlight the Existence of Shared Etiopathogenetic Mechanisms Characterizing Age-Related Macular Degeneration and Neurodegenerative Disorders.

Frontiers In Neurology
Strafella, Claudia C; Caputo, Valerio V; Termine, Andrea A; Fabrizio, Carlo C; Ruffo, Paola P; Potenza, Saverio S; Cusumano, Andrea A; Ricci, Federico F; Caltagirone, Carlo C; Giardina, Emiliano E; Cascella, Raffaella R
Publication Date: 2021

Variant appearance in text: rs3734050
PubMed Link: 34135841
Variant Present in the following documents:
  • Main text
  • fneur-12-626066.pdf
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: FAT2: 10507-52G>A; rs3734050
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: rs3734050
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 21
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 22
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 23
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci.

Plos One
Nowak, Dorota M DM; Gajecka, Marzena M
Publication Date: 2015

Variant appearance in text: rs3734050
PubMed Link: 26176855
Variant Present in the following documents:
  • Main text
  • pone.0132143.pdf
View BVdb publication page