PC c.685G>T ;(p.G229W)

Variant ID: 11-66638312-C-A

NM_001040716.1(PC):c.685G>T;(p.G229W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rapid chromatin repression by Aire provides precise control of immune tolerance.

Nature Immunology
Koh, Andrew S AS; Miller, Erik L EL; Buenrostro, Jason D JD; Moskowitz, David M DM; Wang, Jing J; Greenleaf, William J WJ; Chang, Howard Y HY; Crabtree, Gerald R GR
Publication Date: 2018-02

Variant appearance in text: PC: G229W
PubMed Link: 29335648
Variant Present in the following documents:
  • Main text
  • nihms926184.pdf
View BVdb publication page



The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation
Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL
Publication Date: 2016

Variant appearance in text: PC: 685G>T; Gly229Cys
PubMed Link: 27408750
Variant Present in the following documents:
View BVdb publication page