FAT1 c.4363C>T ;(p.Q1455*)

Variant ID: 4-187549878-G-A

NM_005245.3(FAT1):c.4363C>T;(p.Q1455*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.

Scientific Reports
Roohollahi, Khashayar K; de Jong, Yvonne Y; Pai, Govind G; Zaini, Mohamad Amr MA; de Lint, Klaas K; Sie, Daoud D; Rooimans, Martin A MA; Rockx, Davy D; Hoskins, Elizabeth E EE; Ameziane, Najim N; Wolthuis, Rob R; Joenje, Hans H; Wells, Susanne I SI; Dorsman, Josephine J
Publication Date: 2022-01-07

Variant appearance in text: FAT1: Q1455X
PubMed Link: 34997070
Variant Present in the following documents:
  • 41598_2021_4042_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.

Scientific Reports
Roohollahi, Khashayar K; de Jong, Yvonne Y; Pai, Govind G; Zaini, Mohamad Amr MA; de Lint, Klaas K; Sie, Daoud D; Rooimans, Martin A MA; Rockx, Davy D; Hoskins, Elizabeth E EE; Ameziane, Najim N; Wolthuis, Rob R; Joenje, Hans H; Wells, Susanne I SI; Dorsman, Josephine J
Publication Date: 2022-01-07

Variant appearance in text: FAT1: Q1455X
PubMed Link: 34997070
Variant Present in the following documents:
  • 41598_2021_4042_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: FAT1: Q1455X
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 2
View BVdb publication page



Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulva.

Experimental & Molecular Medicine
Han, Mi-Ryung MR; Shin, Sun S; Park, Hyeon-Chun HC; Kim, Min Sung MS; Lee, Sung Hak SH; Jung, Seung Hyun SH; Song, Sang Yong SY; Lee, Sug Hyung SH; Chung, Yeun-Jun YJ
Publication Date: 2018-02-09

Variant appearance in text: FAT1: Q1455X
PubMed Link: 29422544
Variant Present in the following documents:
  • Main text
View BVdb publication page