SMN1 c.253A>T ;(p.T85S)

Variant ID: 5-70237315-A-T

NM_000344.3(SMN1):c.253A>T;(p.T85S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Computational analysis of cortical neuronal excitotoxicity in a large animal model of neonatal brain injury.

Journal Of Neurodevelopmental Disorders
Kratimenos, Panagiotis P; Vij, Abhya A; Vidva, Robinson R; Koutroulis, Ioannis I; Delivoria-Papadopoulos, Maria M; Gallo, Vittorio V; Sathyanesan, Aaron A
Publication Date: 2022-03-29

Variant appearance in text: SMA: T85S
PubMed Link: 35351004
Variant Present in the following documents:
  • 11689_2022_Article_9431.pdf
View BVdb publication page



CAMKK2 regulates mitochondrial function by controlling succinate dehydrogenase expression, post-translational modification, megacomplex assembly, and activity in a cell-type-specific manner.

Cell Communication And Signaling : Ccs
Sabbir, Mohammad Golam MG; Taylor, Carla G CG; Zahradka, Peter P
Publication Date: 2021-09-25

Variant appearance in text: SMA: T85S
PubMed Link: 34563205
Variant Present in the following documents:
  • 12964_2021_Article_778.pdf
View BVdb publication page