PARP1 c.150C>G ;(p.H50Q)

Variant ID: 1-226590051-G-C

NM_001618.3(PARP1):c.150C>G;(p.H50Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Parkinson's Disease Modification Through Abl Kinase Inhibition: An Opportunity.

Movement Disorders : Official Journal Of The Movement Disorder Society
Werner, Milton H MH; Olanow, C Warren CW
Publication Date: 2022-01

Variant appearance in text: PARP1: H50Q
PubMed Link: 34816484
Variant Present in the following documents:
  • Main text
  • MDS-37-6.pdf
View BVdb publication page



Pathogenic Mutations Differentially Regulate Cell-to-Cell Transmission of α-Synuclein.

Frontiers In Cellular Neuroscience
Guan, Yuan Y; Zhao, Xiaofang X; Liu, Fengwei F; Yan, Shuxin S; Wang, Yalong Y; Du, Cuilian C; Cui, Xiuyu X; Li, Rena R; Zhang, Claire Xi CX
Publication Date: 2020

Variant appearance in text: PARP: H50Q
PubMed Link: 32595456
Variant Present in the following documents:
  • Main text
  • fncel-14-00159.pdf
View BVdb publication page



Parkinson-causing α-synuclein missense mutations shift native tetramers to monomers as a mechanism for disease initiation.

Nature Communications
Dettmer, Ulf U; Newman, Andrew J AJ; Soldner, Frank F; Luth, Eric S ES; Kim, Nora C NC; von Saucken, Victoria E VE; Sanderson, John B JB; Jaenisch, Rudolf R; Bartels, Tim T; Selkoe, Dennis D
Publication Date: 2015-06-16

Variant appearance in text: PARP: H50Q
PubMed Link: 26076669
Variant Present in the following documents:
  • Main text
  • ncomms8314.pdf
View BVdb publication page