SYNJ1 c.749G>A ;(p.R250Q)

Variant ID: 21-34066578-C-T

NM_203446.2(SYNJ1):c.749G>A;(p.R250Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Computational analysis of functional SNPs in Alzheimer's disease-associated endocytosis genes.

Peerj
Tey, Han Jieh HJ; Ng, Chong Han CH
Publication Date: 2019

Variant appearance in text: SYNJ1: R289Q; rs762909719
PubMed Link: 31592138
Variant Present in the following documents:
  • Main text
  • peerj-07-7667.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: SYNJ1: 866G>A; R289H
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page