AFF1 c.2373G>T ;(p.R791S)

Variant ID: 4-88036358-G-T

NM_001166693.1(AFF1):c.2373G>T;(p.R791S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine
Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B
Publication Date: 2023-04-17

Variant appearance in text: AFF1: 2373G>T
PubMed Link: 37066513
Variant Present in the following documents:
  • EMMM-15-e17078-s005.xlsx, sheet 5
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: AFF1: R791S; rs137893463
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page