CALR c.1124A>G ;(p.K375R)

Variant ID: 19-13054597-A-G

NM_004343.3(CALR):c.1124A>G;(p.K375R)

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:

Failed mitochondrial import and impaired proteostasis trigger SUMOylation of mitochondrial proteins.

The Journal Of Biological Chemistry
Paasch, Florian F; den Brave, Fabian F; Psakhye, Ivan I; Pfander, Boris B; Jentsch, Stefan S
Publication Date: 2018-01-12

Variant appearance in text: SSA: K375R
PubMed Link: 29183993
Variant Present in the following documents:
  • 10.1074_M117.817833_jbc.M117.817833-1.pdf
View BVdb publication page