APOE c.334_336delinsGAG ;(p.S112E)

Variant ID: 19-45411887-TCC-GAG

NM_000041.2(APOE):c.334_336delinsGAG;(p.S112E)

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:

Protein Phosphatase PP5 Controls Bone Mass and the Negative Effects of Rosiglitazone on Bone through Reciprocal Regulation of PPARγ (Peroxisome Proliferator-activated Receptor γ) and RUNX2 (Runt-related Transcription Factor 2).

The Journal Of Biological Chemistry
Stechschulte, Lance A LA; Ge, Chunxi C; Hinds, Terry D TD; Sanchez, Edwin R ER; Franceschi, Renny T RT; Lecka-Czernik, Beata B
Publication Date: 2016-11-18

Variant appearance in text: AD2: S112E
PubMed Link: 27687725
Variant Present in the following documents:
  • Main text
View BVdb publication page