PIN1 c.58+839A>G

Variant ID: 19-9946917-A-G

NM_006221.3(PIN1):c.58+839A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic variation in the tau protein phosphatase-2A pathway is not associated with Alzheimer's disease risk.

Bmc Research Notes
Vázquez-Higuera, José L JL; Mateo, Ignacio I; Sánchez-Juan, Pascual P; Rodríguez-Rodríguez, Eloy E; Pozueta, Ana A; Calero, Miguel M; Dobato, José L JL; Frank-García, Ana A; Valdivieso, Fernando F; Berciano, José J; Bullido, Maria J MJ; Combarros, Onofre O
Publication Date: 2011-09-07

Variant appearance in text: rs1077220
PubMed Link: 21899770
Variant Present in the following documents:
  • Main text
  • 1756-0500-4-327.pdf
View BVdb publication page



A PIN1 polymorphism that prevents its suppression by AP4 associates with delayed onset of Alzheimer's disease.

Neurobiology Of Aging
Ma, Suk Ling SL; Tang, Nelson Leung Sang NL; Tam, Cindy Woon Chi CW; Lui, Victor Wing Cheong VW; Lam, Linda Chiu Wa LC; Chiu, Helen Fung Kum HF; Driver, Jane Ann JA; Pastorino, Lucia L; Lu, Kun Ping KP
Publication Date: 2012-04

Variant appearance in text: rs1077220
PubMed Link: 20580132
Variant Present in the following documents:
  • Main text
View BVdb publication page