SI c.637_639delinsGAG ;(p.F213E)

Variant ID: 3-164783217-AAA-CTC

NM_001041.3(SI):c.637_639delinsGAG;(p.F213E)

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:

Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zunke, Friederike F; Andresen, Lisa L; Wesseler, Sophia S; Groth, Johann J; Arnold, Philipp P; Rothaug, Michelle M; Mazzulli, Joseph R JR; Krainc, Dimitri D; Blanz, Judith J; Saftig, Paul P; Schwake, Michael M
Publication Date: 2016-04-05

Variant appearance in text: SI: F213E
PubMed Link: 27001828
Variant Present in the following documents:
  • Main text
View BVdb publication page