EGR1 c.298_299delinsAA ;(p.L100K)

Variant ID: 5-137801748-CT-AA

NM_001964.2(EGR1):c.298_299delinsAA;(p.L100K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Improved microbial genomes and gene catalog of the chicken gut from metagenomic sequencing of high-fidelity long reads.

Gigascience
Zhang, Yan Y; Jiang, Fan F; Yang, Boyuan B; Wang, Sen S; Wang, Hengchao H; Wang, Anqi A; Xu, Dong D; Fan, Wei W
Publication Date: 2022-11-18

Variant appearance in text: 225: l100k
PubMed Link: 36399059
Variant Present in the following documents:
  • giac116_giga-d-22-00175_revision_1.pdf
View BVdb publication page



Mutant huntingtin does not cross the mitochondrial outer membrane.

Human Molecular Genetics
Hamilton, James J; Brustovetsky, Tatiana T; Khanna, Rajesh R; Brustovetsky, Nickolay N
Publication Date: 2020-10-10

Variant appearance in text: 225: L100K
PubMed Link: 32821928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutant huntingtin fails to directly impair brain mitochondria.

Journal Of Neurochemistry
Hamilton, James J; Brustovetsky, Tatiana T; Brustovetsky, Nickolay N
Publication Date: 2019-12

Variant appearance in text: 225: L100K
PubMed Link: 31418857
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deletion of mitochondrial calcium uniporter incompletely inhibits calcium uptake and induction of the permeability transition pore in brain mitochondria.

The Journal Of Biological Chemistry
Hamilton, James J; Brustovetsky, Tatiana T; Rysted, Jacob E JE; Lin, Zhihong Z; Usachev, Yuriy M YM; Brustovetsky, Nickolay N
Publication Date: 2018-10-05

Variant appearance in text: 225: L100K
PubMed Link: 30154242
Variant Present in the following documents:
  • Main text
View BVdb publication page