PC c.190G>A ;(p.V64I)

Variant ID: 11-66639289-C-T

NM_001040716.1(PC):c.190G>A;(p.V64I)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Cell Reports. Medicine
Park, Joseph J; MacLean, Matthew T MT; Lucas, Anastasia M AM; Torigian, Drew A DA; Schneider, Carolin V CV; Cherlin, Tess T; Xiao, Brenda B; Miller, Jason E JE; Bradford, Yuki Y; Judy, Renae L RL; , ; Verma, Anurag A; Damrauer, Scott M SM; Ritchie, Marylyn D MD; Witschey, Walter R WR; Rader, Daniel J DJ
Publication Date: 2022-12-06

Variant appearance in text: PC: V64I
PubMed Link: 36513072
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: PC: V64I
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Stakeholders' views on the utility and employment strategies of clinical associates.

South African Family Practice : Official Journal Of The South African Academy Of Family Practice/Primary Care
Setlhapelo, Arthur A; Wolvaardt, Jacqueline E JE
Publication Date: 2022-10-28

Variant appearance in text: PC: v64i
PubMed Link: 36331204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids.

Nature Communications
Alcala, N N; Leblay, N N; Gabriel, A A G AAG; Mangiante, L L; Hervas, D D; Giffon, T T; Sertier, A S AS; Ferrari, A A; Derks, J J; Ghantous, A A; Delhomme, T M TM; Chabrier, A A; Cuenin, C C; Abedi-Ardekani, B B; Boland, A A; Olaso, R R; Meyer, V V; Altmuller, J J; Le Calvez-Kelm, F F; Durand, G G; Voegele, C C; Boyault, S S; Moonen, L L; Lemaitre, N N; Lorimier, P P; Toffart, A C AC; Soltermann, A A; Clement, J H JH; Saenger, J J; Field, J K JK; Brevet, M M; Blanc-Fournier, C C; Galateau-Salle, F F; Le Stang, N N; Russell, P A PA; Wright, G G; Sozzi, G G; Pastorino, U U; Lacomme, S S; Vignaud, J M JM; Hofman, V V; Hofman, P P; Brustugun, O T OT; Lund-Iversen, M M; Thomas de Montpreville, V V; Muscarella, L A LA; Graziano, P P; Popper, H H; Stojsic, J J; Deleuze, J F JF; Herceg, Z Z; Viari, A A; Nuernberg, P P; Pelosi, G G; Dingemans, A M C AMC; Milione, M M; Roz, L L; Brcic, L L; Volante, M M; Papotti, M G MG; Caux, C C; Sandoval, J J; Hernandez-Vargas, H H; Brambilla, E E; Speel, E J M EJM; Girard, N N; Lantuejoul, S S; McKay, J D JD; Foll, M M; Fernandez-Cuesta, L L
Publication Date: 2019-08-20

Variant appearance in text: PC: 190G>A
PubMed Link: 31431620
Variant Present in the following documents:
  • 41467_2019_11276_MOESM7_ESM.xlsx, sheet 1
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: 190G>A
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Molecular mechanisms and design principles for promiscuous inhibitors to avoid drug resistance: lessons learned from HIV-1 protease inhibition.

Proteins
Shen, Yang Y; Radhakrishnan, Mala L ML; Tidor, Bruce B
Publication Date: 2015-02

Variant appearance in text: PC: V64I
PubMed Link: 25410041
Variant Present in the following documents:
  • PROT-83-351.pdf
View BVdb publication page



Mitochondrial genome variations in advanced stage endometriosis: a study in South Indian population.

Plos One
Govatati, Suresh S; Tipirisetti, Nageswara Rao NR; Perugu, Shyam S; Kodati, Vijaya Lakshmi VL; Deenadayal, Mamata M; Satti, Vishnupriya V; Bhanoori, Manjula M; Shivaji, S S
Publication Date: 2012

Variant appearance in text: PC: V64I
PubMed Link: 22815783
Variant Present in the following documents:
  • Main text
  • pone.0040668.pdf
View BVdb publication page



Mitochondrial DNA somatic mutations (point mutations and large deletions) and mitochondrial DNA variants in human thyroid pathology: a study with emphasis on Hürthle cell tumors.

The American Journal Of Pathology
Máximo, Valdemar V; Soares, Paula P; Lima, Jorge J; Cameselle-Teijeiro, José J; Sobrinho-Simões, Manuel M
Publication Date: 2002-05

Variant appearance in text: PC: V64I
PubMed Link: 12000737
Variant Present in the following documents:
  • Main text
View BVdb publication page