EGR1 c.118_120delinsAAC ;(p.L40N)

Variant ID: 5-137801568-CTG-AAC

NM_001964.2(EGR1):c.118_120delinsAAC;(p.L40N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Receptor-specific recognition of NPY peptides revealed by structures of NPY receptors.

Science Advances
Tang, Tingting T; Tan, Qiuxiang Q; Han, Shuo S; Diemar, Anne A; Löbner, Kristin K; Wang, Hongyu H; Schüß, Corinna C; Behr, Victoria V; Mörl, Karin K; Wang, Mu M; Chu, Xiaojing X; Yi, Cuiying C; Keller, Max M; Kofoed, Jacob J; Reedtz-Runge, Steffen S; Kaiser, Anette A; Beck-Sickinger, Annette G AG; Zhao, Qiang Q; Wu, Beili B
Publication Date: 2022-05-06

Variant appearance in text: 225: L40N
PubMed Link: 35507650
Variant Present in the following documents:
  • sciadv.abm1232_sm.pdf
View BVdb publication page



Embeddings from protein language models predict conservation and variant effects.

Human Genetics
Marquet, Céline C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B
Publication Date: 2022-10

Variant appearance in text: 225: L40N
PubMed Link: 34967936
Variant Present in the following documents:
  • 439_2021_2411_MOESM3_ESM.xlsx, sheet 34
View BVdb publication page



Insights into a Protein-Nanoparticle System by Paramagnetic Perturbation NMR Spectroscopy.

Molecules (Basel, Switzerland)
Hunashal, Yamanappa Y; Cantarutti, Cristina C; Giorgetti, Sofia S; Marchese, Loredana L; Fogolari, Federico F; Esposito, Gennaro G
Publication Date: 2020-11-07

Variant appearance in text: 225: L40N
PubMed Link: 33171781
Variant Present in the following documents:
  • molecules-25-05187-s001.pdf
View BVdb publication page