CFTR c.91C>A ;(p.R31S)

Variant ID: 7-117144344-C-A

NM_000492.3(CFTR):c.91C>A;(p.R31S)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Genetic factors underlying tacrolimus intolerance after liver transplantation.

Frontiers In Immunology
Liu, Yuan Y; Wang, Rui R; Wen, Peizhen P; An, Wenbin W; Zheng, Jinxin J; Zhang, Tao T; Zhang, Pengshan P; Wang, Haoyu H; Zou, Fan F; Pan, Hui H; Fan, Junwei J; Peng, Zhihai Z
Publication Date: 2022

Variant appearance in text: rs1800073
PubMed Link: 36248867
Variant Present in the following documents:
  • Main text
  • fimmu-13-944442.pdf
View BVdb publication page



Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics
Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W
Publication Date: 2021-11-05

Variant appearance in text: rs1800073
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_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: rs1800073
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: rs1800073
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s010.xlsx, sheet 1
View BVdb publication page



Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics
Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P
Publication Date: 2019

Variant appearance in text: CFTR: Arg31Ser
PubMed Link: 31832098
Variant Present in the following documents:
  • 13039_2019_459_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Differential analysis of mutations in the Jewish population and their implications for diseases.

Genetics Research
Einhorn, Yaron Y; Weissglas-Volkov, Daphna D; Carmi, Shai S; Ostrer, Harry H; Friedman, Eitan E; Shomron, Noam N
Publication Date: 2017-05-15

Variant appearance in text: rs1800073
PubMed Link: 28502252
Variant Present in the following documents:
  • Main text
  • S0016672317000015a.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1800073
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.

Human Molecular Genetics
Ni, Bixian B; Lin, Yuan Y; Sun, Liangdan L; Zhu, Meng M; Li, Zheng Z; Wang, Hui H; Yu, Jun J; Guo, Xuejiang X; Zuo, Xianbo X; Dong, Jing J; Xia, Yankai Y; Wen, Yang Y; Wu, Hao H; Li, Honggang H; Zhu, Yong Y; Ping, Ping P; Chen, Xiangfeng X; Dai, Juncheng J; Jiang, Yue Y; Xu, Peng P; Du, Qiang Q; Yao, Bing B; Weng, Ning N; Lu, Hui H; Wang, Zhuqing Z; Zhu, Xiaobin X; Yang, Xiaoyu X; Xiong, Chenliang C; Ma, Hongxia H; Jin, Guangfu G; Xu, Jianfeng J; Wang, Xinru X; Zhou, Zuomin Z; Liu, Jiayin J; Zhang, Xuejun X; Conrad, Donald F DF; Hu, Zhibin Z; Sha, Jiahao J
Publication Date: 2015-10-01

Variant appearance in text: rs1800073
PubMed Link: 26199320
Variant Present in the following documents:
  • Main text
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs1800073
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR
Publication Date: 2013-10

Variant appearance in text: rs1800073
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-12.xlsx, sheet 1
View BVdb publication page