TTN c.1369G>C ;(p.A457P)

Variant ID: 2-179659155-C-G

NM_001267550.1(TTN):c.1369G>C;(p.A457P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.

Frontiers In Synaptic Neuroscience
Farr, Clemens V CV; El-Kasaby, Ali A; Freissmuth, Michael M; Sucic, Sonja S
Publication Date: 2020

Variant appearance in text: TMD: A457P
PubMed Link: 33192443
Variant Present in the following documents:
  • Main text
  • fnsyn-12-588954.pdf
View BVdb publication page



A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Hahn, Maureen K MK; Robertson, David D; Blakely, Randy D RD
Publication Date: 2003-06-01

Variant appearance in text: TMD: A457P
PubMed Link: 12805287
Variant Present in the following documents:
  • Main text
View BVdb publication page



Physiological genomics of antidepressant targets: keeping the periphery in mind.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Blakely, R D RD
Publication Date: 2001-11-01

Variant appearance in text: TMD: A457P
PubMed Link: 11606618
Variant Present in the following documents:
  • Main text
View BVdb publication page