F2 c.214G>T ;(p.E72*)

Variant ID: 11-46741386-G-T

NM_000506.3(F2):c.214G>T;(p.E72*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.

Frontiers In Genetics
Ding, Si S; Liang, Lili L; Qiu, Wenjuan W; Zhang, Huiwen H; Xiao, Bing B; Dong, Liping L; Ji, Wenjun W; Xu, Feng F; Gong, Zhuwen Z; Gu, Xuefan X; Wang, Lei L; Han, Lianshu L
Publication Date: 2022

Variant appearance in text: F2: 214G>T
PubMed Link: 35846131
Variant Present in the following documents:
  • Main text
View BVdb publication page



The barley leaf rust resistance gene Rph3 encodes a predicted membrane protein and is induced upon infection by avirulent pathotypes of Puccinia hordei.

Nature Communications
Dinh, Hoan X HX; Singh, Davinder D; Gomez de la Cruz, Diana D; Hensel, Goetz G; Kumlehn, Jochen J; Mascher, Martin M; Stein, Nils N; Perovic, Dragan D; Ayliffe, Michael M; Moscou, Matthew J MJ; Park, Robert F RF; Pourkheirandish, Mohammad M
Publication Date: 2022-05-02

Variant appearance in text: F2: E72*
PubMed Link: 35501307
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29840.pdf
View BVdb publication page



Genetic landscape of T cells identifies synthetic lethality for T-ALL.

Communications Biology
O'Meara, Connor P CP; Guerri, Lucia L; Lawir, Divine-Fondzenyuy DF; Mateos, Fernando F; Iconomou, Mary M; Iwanami, Norimasa N; Soza-Ried, Cristian C; Sikora, Katarzyna K; Siamishi, Iliana I; Giorgetti, Orlando O; Peter, Sarah S; Schorpp, Michael M; Boehm, Thomas T
Publication Date: 2021-10-20

Variant appearance in text: F2: E72X
PubMed Link: 34671088
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2694.pdf
View BVdb publication page



Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.

Frontiers In Genetics
Xiao, Bing B; Qiu, Wenjuan W; Ye, Jun J; Zhang, Huiwen H; Zhu, Hong H; Wang, Lei L; Liang, Lili L; Xu, Feng F; Chen, Ting T; Xu, Yan Y; Yu, Yongguo Y; Gu, Xuefan X; Han, Lianshu L
Publication Date: 2020

Variant appearance in text: F2: 214G>T
PubMed Link: 32508882
Variant Present in the following documents:
  • Main text
  • fgene-11-00496.pdf
View BVdb publication page