PC c.280C>T ;(p.Q94*)

Variant ID: 11-66639199-G-A

NM_001040716.1(PC):c.280C>T;(p.Q94*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


SARS-CoV-2 Delta variant isolates from vaccinated individuals.

Bmc Genomics
Brinkac, Lauren L; Diepold, Sheila S; Mitchell, Shane S; Sarnese, Stephanie S; Kolakowski, Lee F LF; Nelson, William M WM; Jennings, Katharine K
Publication Date: 2022-06-04

Variant appearance in text: PC: Q94*
PubMed Link: 35658876
Variant Present in the following documents:
  • 12864_2022_Article_8652.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: 280C>T
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



The molecular genetic analysis of the expanding pachyonychia congenita case collection.

The British Journal Of Dermatology
Wilson, N J NJ; O'Toole, E A EA; Milstone, L M LM; Hansen, C D CD; Shepherd, A A AA; Al-Asadi, E E; Schwartz, M E ME; McLean, W H I WH; Sprecher, E E; Smith, F J D FJ
Publication Date: 2014-08

Variant appearance in text: PC: 280C>T
PubMed Link: 24611874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.

The Journal Of Allergy And Clinical Immunology
Agostoni, Angelo A; Aygören-Pürsün, Emel E; Binkley, Karen E KE; Blanch, Alvaro A; Bork, Konrad K; Bouillet, Laurence L; Bucher, Christoph C; Castaldo, Anthony J AJ; Cicardi, Marco M; Davis, Alvin E AE; De Carolis, Caterina C; Drouet, Christian C; Duponchel, Christiane C; Farkas, Henriette H; Fáy, Kálmán K; Fekete, Béla B; Fischer, Bettina B; Fontana, Luigi L; Füst, George G; Giacomelli, Roberto R; Gröner, Albrecht A; Hack, C Erik CE; Harmat, George G; Jakenfelds, John J; Juers, Mathias M; Kalmár, Lajos L; Kaposi, Pál N PN; Karádi, István I; Kitzinger, Arianna A; Kollár, Tímea T; Kreuz, Wolfhart W; Lakatos, Peter P; Longhurst, Hilary J HJ; Lopez-Trascasa, Margarita M; Martinez-Saguer, Inmaculada I; Monnier, Nicole N; Nagy, István I; Németh, Eva E; Nielsen, Erik Waage EW; Nuijens, Jan H JH; O'grady, Caroline C; Pappalardo, Emanuela E; Penna, Vincenzo V; Perricone, Carlo C; Perricone, Roberto R; Rauch, Ursula U; Roche, Olga O; Rusicke, Eva E; Späth, Peter J PJ; Szendei, George G; Takács, Edit E; Tordai, Attila A; Truedsson, Lennart L; Varga, Lilian L; Visy, Beáta B; Williams, Kayla K; Zanichelli, Andrea A; Zingale, Lorenza L
Publication Date: 2004-09

Variant appearance in text: PC: Q94X
PubMed Link: 15356535
Variant Present in the following documents:
  • main.pdf
View BVdb publication page