CFTR c.221G>A ;(p.R74Q)

Variant ID: 7-117149144-G-A

NM_000492.3(CFTR):c.221G>A;(p.R74Q)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.

Plos One
Berke, Gergő G; Gede, Noémi N; Szadai, Letícia L; Ocskay, Klementina K; Hegyi, Péter P; Sahin-Tóth, Miklós M; Hegyi, Eszter E
Publication Date: 2022

Variant appearance in text: CFTR: R74Q
PubMed Link: 36264955
Variant Present in the following documents:
  • Main text
  • pone.0276397.pdf
View BVdb publication page



Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: CFTR: R74Q
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
View BVdb publication page



Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 221G>A; R74Q; rs142540482
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells
Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR
Publication Date: 2021-12-24

Variant appearance in text: CFTR: R74Q
PubMed Link: 35011616
Variant Present in the following documents:
  • Main text
  • cells-11-00054.pdf
View BVdb publication page



Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells
Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR
Publication Date: 2021-12-24

Variant appearance in text: CFTR: R74Q
PubMed Link: 35011616
Variant Present in the following documents:
  • Main text
  • cells-11-00054.pdf
View BVdb publication page



Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology
Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA
Publication Date: 2022-02

Variant appearance in text: CFTR: 221G>A; Arg74Gln
PubMed Link: 34973142
Variant Present in the following documents:
  • 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs142540482
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A
Publication Date: 2020-05-01

Variant appearance in text: CFTR: R74Q
PubMed Link: 32357917
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_958.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: CFTR: 221G>A; Arg74Gln; rs142540482
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related Disorders.

Cellular And Molecular Gastroenterology And Hepatology
Kim, Yonjung Y; Jun, Ikhyun I; Shin, Dong Hoon DH; Yoon, Jihoon G JG; Piao, He H; Jung, Jinsei J; Park, Hyun Woo HW; Cheng, Mary Hongying MH; Bahar, Ivet I; Whitcomb, David C DC; Lee, Min Goo MG
Publication Date: 2020

Variant appearance in text: CFTR: R74Q
PubMed Link: 31561038
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: CFTR/MRP: R74Q
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04

Variant appearance in text: CFTR: R74Q
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.pdf
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: CFTR: R74Q
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 9
View BVdb publication page



Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

Plos Genetics
LaRusch, Jessica J; Jung, Jinsei J; General, Ignacio J IJ; Lewis, Michele D MD; Park, Hyun Woo HW; Brand, Randall E RE; Gelrud, Andres A; Anderson, Michelle A MA; Banks, Peter A PA; Conwell, Darwin D; Lawrence, Christopher C; Romagnuolo, Joseph J; Baillie, John J; Alkaade, Samer S; Cote, Gregory G; Gardner, Timothy B TB; Amann, Stephen T ST; Slivka, Adam A; Sandhu, Bimaljit B; Aloe, Amy A; Kienholz, Michelle L ML; Yadav, Dhiraj D; Barmada, M Michael MM; Bahar, Ivet I; Lee, Min Goo MG; Whitcomb, David C DC; ,
Publication Date: 2014-07

Variant appearance in text: CFTR: R74Q
PubMed Link: 25033378
Variant Present in the following documents:
  • Main text
  • pgen.1004376.pdf
View BVdb publication page



Genetics and treatment options for recurrent acute and chronic pancreatitis.

Current Treatment Options In Gastroenterology
Shelton, Celeste A CA; Whitcomb, David C DC
Publication Date: 2014-09

Variant appearance in text: CFTR: R74Q
PubMed Link: 24954874
Variant Present in the following documents:
  • Main text
View BVdb publication page



A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Plos One
Masson, Emmanuelle E; Chen, Jian-Min JM; Audrézet, Marie-Pierre MP; Cooper, David N DN; Férec, Claude C
Publication Date: 2013

Variant appearance in text: CFTR: R74Q
PubMed Link: 23951356
Variant Present in the following documents:
  • pone.0073522.s001.xls, sheet 1
View BVdb publication page



Sequence analysis of the human tyrosylprotein sulfotransferase-2 gene in subjects with chronic pancreatitis.

Pancreatology : Official Journal Of The International Association Of Pancreatology (Iap) ... [Et Al.]
Rosendahl, Jonas J; Rónai, Zsolt Z; Kovacs, Peter P; Teich, Niels N; Wittenburg, Henning H; Blüher, Matthias M; Stumvoll, Michael M; Mössner, Joachim J; Keim, Volker V; Bradbury, Andrew R M AR; Sahin-Tóth, Miklós M
Publication Date: 2010

Variant appearance in text: CFTR: R74Q
PubMed Link: 20460947
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P
Publication Date: 2005-08

Variant appearance in text: CFTR: R74Q
PubMed Link: 16049310
Variant Present in the following documents:
  • Main text
View BVdb publication page