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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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