TFE3 c.1450G>A ;(p.A484T)

Variant ID: X-48887947-C-T

NM_006521.4(TFE3):c.1450G>A;(p.A484T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: TFE3: 1450G>A; A484T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Doher, Nicholas N; Gupta, Harsh V HV
Publication Date: 2019

Variant appearance in text: TFE3: A484T; rs61742676
PubMed Link: 31824748
Variant Present in the following documents:
  • tre-09-739-s003.xlsx, sheet 3
View BVdb publication page



Telomere alterations in neurofibromatosis type 1-associated solid tumors.

Acta Neuropathologica Communications
Rodriguez, Fausto J FJ; Graham, Mindy K MK; Brosnan-Cashman, Jacqueline A JA; Barber, John R JR; Davis, Christine C; Vizcaino, M Adelita MA; Palsgrove, Doreen N DN; Giannini, Caterina C; Pekmezci, Melike M; Dahiya, Sonika S; Gokden, Murat M; Noë, Michael M; Wood, Laura D LD; Pratilas, Christine A CA; Morris, Carol D CD; Belzberg, Allan A; Blakeley, Jaishri J; Heaphy, Christopher M CM
Publication Date: 2019-08-28

Variant appearance in text: TFE3: A484T
PubMed Link: 31462295
Variant Present in the following documents:
  • 40478_2019_792_MOESM1_ESM.pdf
View BVdb publication page



Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Palsgrove, Doreen N DN; Brosnan-Cashman, Jacqueline A JA; Giannini, Caterina C; Raghunathan, Aditya A; Jentoft, Mark M; Bettegowda, Chetan C; Gokden, Murat M; Lin, Doris D; Yuan, Ming M; Lin, Ming-Tseh MT; Heaphy, Christopher M CM; Rodriguez, Fausto J FJ
Publication Date: 2018-12

Variant appearance in text: TFE3: A484T; rs61742676
PubMed Link: 29973652
Variant Present in the following documents:
  • NIHMS972465-supplement-2.xlsx, sheet 1
  • NIHMS972465-supplement-1.xlsx, sheet 6
View BVdb publication page



Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine
Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M
Publication Date: 2018-04-09

Variant appearance in text: TFE3: A484T
PubMed Link: 29642553
Variant Present in the following documents:
  • Main text
  • jpm-08-00013.pdf
View BVdb publication page