CALR c.857A>G ;(p.K286R)

Variant ID: 19-13051598-A-G

NM_004343.3(CALR):c.857A>G;(p.K286R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: K286R
PubMed Link: 23277556
Variant Present in the following documents:
  • Main text
View BVdb publication page