PC c.1446C>A ;(p.D482E)

Variant ID: 11-66620777-G-T

NM_001040716.1(PC):c.1446C>A;(p.D482E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: PC: 1446C>A; Asp482Glu
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Conserved glutamate residues Glu-343 and Glu-519 provide mechanistic insights into cation/nucleoside cotransport by human concentrative nucleoside transporter hCNT3.

The Journal Of Biological Chemistry
Slugoski, Melissa D MD; Smith, Kyla M KM; Ng, Amy M L AML; Yao, Sylvia Y M SYM; Karpinski, Edward E; Cass, Carol E CE; Baldwin, Stephen A SA; Young, James D JD
Publication Date: 2009-06-19

Variant appearance in text: PC: D482E
PubMed Link: 19380587
Variant Present in the following documents:
  • Main text
View BVdb publication page