SLC24A3 c.577T>A ;(p.C193S)

Variant ID: 20-19566153-T-A

NM_020689.3(SLC24A3):c.577T>A;(p.C193S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cellular and genetic drivers of RNA editing variation in the human brain.

Nature Communications
Cuddleston, Winston H WH; Li, Junhao J; Fan, Xuanjia X; Kozenkov, Alexey A; Lalli, Matthew M; Khalique, Shahrukh S; Dracheva, Stella S; Mukamel, Eran A EA; Breen, Michael S MS
Publication Date: 2022-05-30

Variant appearance in text: SLC24A3: 577T>A
PubMed Link: 35637184
Variant Present in the following documents:
  • 41467_2022_30531_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: SLC24A3: 577T>A
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page