JAK2 c.6A>G ;(p.G2=)

Variant ID: 9-5021993-A-G

NM_004972.3(JAK2):c.6A>G;(p.G2=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Characterizing the molecular regulation of inhibitory immune checkpoints with multimodal single-cell screens.

Nature Genetics
Papalexi, Efthymia E; Mimitou, Eleni P EP; Butler, Andrew W AW; Foster, Samantha S; Bracken, Bernadette B; Mauck, William M WM; Wessels, Hans-Hermann HH; Hao, Yuhan Y; Yeung, Bertrand Z BZ; Smibert, Peter P; Satija, Rahul R
Publication Date: 2021-03

Variant appearance in text: JAK2: g2=
PubMed Link: 33649593
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; Handsaker, Robert E RE; Finucane, Hilary K HK; Reshef, Yakir A YA; Palamara, Pier Francesco PF; Birmann, Brenda M BM; Talkowski, Michael E ME; Bakhoum, Samuel F SF; McCarroll, Steven A SA; Price, Alkes L AL
Publication Date: 2018-07

Variant appearance in text: JAK2: g2=
PubMed Link: 29995854
Variant Present in the following documents:
  • nihms968664.pdf
View BVdb publication page