CALR c.640T>C ;(p.S214P)

Variant ID: 19-13051204-T-C

NM_004343.3(CALR):c.640T>C;(p.S214P)

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: SSA: 640T>C
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.

Vision Research
Baraas, Rigmor C RC; Hagen, Lene A LA; Dees, Elise W EW; Neitz, Maureen M
Publication Date: 2012-11-15

Variant appearance in text: CRT: S214P
PubMed Link: 23022137
Variant Present in the following documents:
  • Main text
View BVdb publication page