CFTR c.960A>G ;(p.L320=)

Variant ID: 7-117180244-A-G

NM_000492.3(CFTR):c.960A>G;(p.L320=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: CFTR: L320L
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_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: rs56093012
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine
Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS
Publication Date: 2021-05

Variant appearance in text: CFTR: L320=; rs56093012
PubMed Link: 33811746
Variant Present in the following documents:
  • CAM4-10-3045-s001.xlsx, sheet 2
View BVdb publication page



Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Nature Communications
Newell, Felicity F; Kong, Yan Y; Wilmott, James S JS; Johansson, Peter A PA; Ferguson, Peter M PM; Cui, Chuanliang C; Li, Zhongwu Z; Kazakoff, Stephen H SH; Burke, Hazel H; Dodds, Tristan J TJ; Patch, Ann-Marie AM; Nones, Katia K; Tembe, Varsha V; Shang, Ping P; van der Weyden, Louise L; Wong, Kim K; Holmes, Oliver O; Lo, Serigne S; Leonard, Conrad C; Wood, Scott S; Xu, Qinying Q; Rawson, Robert V RV; Mukhopadhyay, Pamela P; Dummer, Reinhard R; Levesque, Mitchell P MP; Jönsson, Göran G; Wang, Xuan X; Yeh, Iwei I; Wu, Hong H; Joseph, Nancy N; Bastian, Boris C BC; Long, Georgina V GV; Spillane, Andrew J AJ; Shannon, Kerwin F KF; Thompson, John F JF; Saw, Robyn P M RPM; Adams, David J DJ; Si, Lu L; Pearson, John V JV; Hayward, Nicholas K NK; Waddell, Nicola N; Mann, Graham J GJ; Guo, Jun J; Scolyer, Richard A RA
Publication Date: 2019-07-18

Variant appearance in text: CFTR: 960A>G; Leu320Leu
PubMed Link: 31320640
Variant Present in the following documents:
  • 41467_2019_11107_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page