CFTR c.3793G>A ;(p.G1265R)

Variant ID: 7-117282567-G-A

NM_000492.3(CFTR):c.3793G>A;(p.G1265R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: CFTR: 3793G>A; Gly1265Arg
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM9_ESM.xlsx, sheet 11
  • 41417_2022_572_MOESM2_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: CFTR: G1265R
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: CFTR: 3793G>A; G1265R
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: CFTR: 3793G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: CFTR: G1265R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.

Disease Markers
Essawi, O O; Farraj, M M; De Leeneer, K K; Steyaert, W W; De Pauw, K K; De Paepe, A A; Claes, K K; Essawi, T T; Coucke, P J PJ
Publication Date: 2015

Variant appearance in text: CFTR: 3793G>A; Gly1265Arg
PubMed Link: 25688174
Variant Present in the following documents:
  • Main text
  • DM2015-458653.pdf
View BVdb publication page