ADAR c.1646C>A ;(p.A549D)

Variant ID: 1-154571017-G-T

NM_001111.4(ADAR):c.1646C>A;(p.A549D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ADAR: 1646C>A; Ala549Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page



Modulation of SF3B1 in the pre-mRNA spliceosome induces a RIG-I-dependent type I IFN response.

The Journal Of Biological Chemistry
Chang, Aaron Y AY; Zhou, Yu Jerry YJ; Iyengar, Sharanya S; Pobiarzyn, Piotr W PW; Tishchenko, Pavel P; Shah, Kesha M KM; Wheeler, Heather H; Wang, Yue-Ming YM; Loria, Paula M PM; Loganzo, Frank F; Woo, Seng-Ryong SR
Publication Date: 2021-11

Variant appearance in text: ADAR1: a549d
PubMed Link: 34619148
Variant Present in the following documents:
  • main.pdf
View BVdb publication page