EIF2B1 c.571G>A ;(p.D191N)

Variant ID: 12-124109390-C-T

NM_001414.3(EIF2B1):c.571G>A;(p.D191N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

Life Science Alliance
Gingras, Marie-Claude MC; Sabo, Aniko A; Cardenas, Maria M; Rana, Abbas A; Dhingra, Sadhna S; Meng, Qingchang Q; Hu, Jianhong J; Muzny, Donna M DM; Doddapaneni, Harshavardhan H; Perez, Lesette L; Korchina, Viktoriya V; Nessner, Caitlin C; Liu, Xiuping X; Chao, Hsu H; Goss, John J; Gibbs, Richard A RA
Publication Date: 2021-09

Variant appearance in text: EIF2B1: D191N; rs368027476
PubMed Link: 34301805
Variant Present in the following documents:
  • LSA-2020-00941_TableS4.xlsx, sheet 1
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: EIF2B1: 571G>A; D191N; rs368027476
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: EIF2B1: D191N; rs368027476
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page