PSEN1 c.124_125delinsGC ;(p.R42A)

Variant ID: 14-73637541-CG-GC

NM_000021.3(PSEN1):c.124_125delinsGC;(p.R42A)

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:

Cyclin-dependent kinase 1-mediated AMPK phosphorylation regulates chromosome alignment and mitotic progression.

Journal Of Cell Science
Stauffer, Seth S; Zeng, Yongji Y; Santos, Montserrat M; Zhou, Jiuli J; Chen, Yuanhong Y; Dong, Jixin J
Publication Date: 2019-10-28

Variant appearance in text: S182: R42A
PubMed Link: 31519809
Variant Present in the following documents:
  • Main text
View BVdb publication page