PC c.802C>T ;(p.Q268*)

Variant ID: 11-66637874-G-A

NM_001040716.1(PC):c.802C>T;(p.Q268*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


UGT2B7 c.-161C>T polymorphism frequency in Croatian population.

Arhiv Za Higijenu Rada I Toksikologiju
Božina, Tamara T; Karačić, Ena E; Ganoci, Lana L; Čuković-Čavka, Silvija S; Palić, Jozefina J; Božina, Nada N; Šimičević, Livija L
Publication Date: 2022-12-01

Variant appearance in text: PC: 802C>T
PubMed Link: 36607721
Variant Present in the following documents:
  • aiht-73-303.pdf
View BVdb publication page



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: 802C>T
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.

International Journal Of Pediatric Endocrinology
Demirbilek, Huseyin H; Rahman, Sofia A SA; Buyukyilmaz, Gonul Gulal GG; Hussain, Khalid K
Publication Date: 2017

Variant appearance in text: PC: Q268X
PubMed Link: 28855921
Variant Present in the following documents:
  • 13633_2017_Article_48.pdf
View BVdb publication page



Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.

Frontiers In Endocrinology
Nessa, Azizun A; Rahman, Sofia A SA; Hussain, Khalid K
Publication Date: 2016

Variant appearance in text: PC: Q268X
PubMed Link: 27065949
Variant Present in the following documents:
  • fendo-07-00029.pdf
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: PC: 802C>T
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



The role of noise and positive feedback in the onset of autosomal dominant diseases.

Bmc Systems Biology
Bosl, William J WJ; Li, Rong R
Publication Date: 2010-06-29

Variant appearance in text: PC: Q268X
PubMed Link: 20587063
Variant Present in the following documents:
  • 1752-0509-4-93.pdf
View BVdb publication page