CALR c.856_857delinsGC ;(p.K286A)

Variant ID: 19-13051597-AA-GC

NM_004343.3(CALR):c.856_857delinsGC;(p.K286A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multivalent Histone and DNA Engagement by a PHD/BRD/PWWP Triple Reader Cassette Recruits ZMYND8 to K14ac-Rich Chromatin.

Cell Reports
Savitsky, Pavel P; Krojer, Tobias T; Fujisawa, Takao T; Lambert, Jean-Philippe JP; Picaud, Sarah S; Wang, Chen-Yi CY; Shanle, Erin K EK; Krajewski, Krzysztof K; Friedrichsen, Hans H; Kanapin, Alexander A; Goding, Colin C; Schapira, Matthieu M; Samsonova, Anastasia A; Strahl, Brian D BD; Gingras, Anne-Claude AC; Filippakopoulos, Panagis P
Publication Date: 2016-12-06

Variant appearance in text: SSA: K286A
PubMed Link: 27926874
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Yang, Chunzhang C; Rahimpour, Shervin S; Lu, Jie J; Pacak, Karel K; Ikejiri, Barbara B; Brady, Roscoe O RO; Zhuang, Zhengping Z
Publication Date: 2013-01-15

Variant appearance in text: CALR: K286A
PubMed Link: 23277556
Variant Present in the following documents:
  • Main text
View BVdb publication page