GC c.271_272delinsGC ;(p.L91A)

Variant ID: 4-72631350-AG-GC

NM_000583.3(GC):c.271_272delinsGC;(p.L91A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-genome doubling drives oncogenic loss of chromatin segregation.

Nature
Lambuta, Ruxandra A RA; Nanni, Luca L; Liu, Yuanlong Y; Diaz-Miyar, Juan J; Iyer, Arvind A; Tavernari, Daniele D; Katanayeva, Natalya N; Ciriello, Giovanni G; Oricchio, Elisa E
Publication Date: 2023-03-15

Variant appearance in text: GC: 271_272delinsGC; Leu91Ala
PubMed Link: 36922594
Variant Present in the following documents:
  • 41586_2023_5794_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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: GC: L91A
PubMed Link: 27001828
Variant Present in the following documents:
  • Main text
View BVdb publication page