SORT1 c.2251-415T>G

Variant ID: 1-109857815-A-C

NM_002959.5(SORT1):c.2251-415T>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mutant Huntingtin Affects Diabetes and Alzheimer's Markers in Human and Cell Models of Huntington's Disease.

Cells
Chaves, Gepoliano G; Stanley, John J; Pourmand, Nader N
Publication Date: 2019-08-23

Variant appearance in text: rs17585355
PubMed Link: 31450785
Variant Present in the following documents:
  • cells-08-00962-s001.pdf
View BVdb publication page



A Genetic Variant of the Sortilin 1 Gene is Associated with Reduced Risk of Alzheimer's Disease.

Journal Of Alzheimer'S Disease : Jad
Andersson, Carl-Henrik CH; Hansson, Oskar O; Minthon, Lennart L; Andreasen, Niels N; Blennow, Kaj K; Zetterberg, Henrik H; Skoog, Ingmar I; Wallin, Anders A; Nilsson, Staffan S; Kettunen, Petronella P
Publication Date: 2016-07-01

Variant appearance in text: rs17585355
PubMed Link: 27392867
Variant Present in the following documents:
  • Main text
  • jad-53-jad160319.pdf
View BVdb publication page



Increased serum levels of sortilin are associated with depression and correlated with BDNF and VEGF.

Translational Psychiatry
Buttenschøn, H N HN; Demontis, D D; Kaas, M M; Elfving, B B; Mølgaard, S S; Gustafsen, C C; Kaerlev, L L; Petersen, C M CM; Børglum, A D AD; Mors, O O; Glerup, S S
Publication Date: 2015-11-10

Variant appearance in text: rs17585355
PubMed Link: 26556286
Variant Present in the following documents:
  • Main text
  • tp2015167a.pdf
View BVdb publication page



Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.

Human Molecular Genetics
Reynolds, Chandra A CA; Hong, Mun-Gwan MG; Eriksson, Ulrika K UK; Blennow, Kaj K; Wiklund, Fredrik F; Johansson, Boo B; Malmberg, Bo B; Berg, Stig S; Alexeyenko, Andrey A; Grönberg, Henrik H; Gatz, Margaret M; Pedersen, Nancy L NL; Prince, Jonathan A JA
Publication Date: 2010-05-15

Variant appearance in text: rs17585355
PubMed Link: 20167577
Variant Present in the following documents:
  • Main text
View BVdb publication page