SYNJ1 c.1342G>A ;(p.G448R)

Variant ID: 21-34053817-C-T

NM_203446.2(SYNJ1):c.1342G>A;(p.G448R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: SYNJ1: G487R
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



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: G487R; rs775515863
PubMed Link: 31592138
Variant Present in the following documents:
  • Main text
  • peerj-07-7667.pdf
View BVdb publication page