CFTR c.640C>G ;(p.L214V)

Variant ID: 7-117175362-C-G

NM_000492.3(CFTR):c.640C>G;(p.L214V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetics of Male Infertility - Present and Future: A Narrative Review.

Journal Of Human Reproductive Sciences
Sudhakar, Digumarthi V S DVS; Shah, Rupin R; Gajbhiye, Rahul K RK
Publication Date: 2021

Variant appearance in text: CFTR: L214V
PubMed Link: 34759610
Variant Present in the following documents:
  • JHRS-14-217.pdf
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: rs188457893
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.

The Indian Journal Of Medical Research
Gaikwad, Avinash A; Khan, Shagufta S; Kadam, Seema S; Shah, Rupin R; Kulkarni, Vijay V; Kumaraswamy, Rangaswamy R; Kadam, Kaushiki K; Dighe, Vikas V; Gajbhiye, Rahul R
Publication Date: 2020-12

Variant appearance in text: CFTR: 640C>G; L214V
PubMed Link: 34145097
Variant Present in the following documents:
  • Main text
  • IJMR-152-575.pdf
View BVdb publication page



Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Cellular & Molecular Biology Letters
Bartoszewski, Rafal R; Króliczewski, Jaroslaw J; Piotrowski, Arkadiusz A; Jasiecka, Anna Janaszak AJ; Bartoszewska, Sylwia S; Vecchio-Pagan, Briana B; Fu, Lianwu L; Sobolewska, Aleksandra A; Matalon, Sadis S; Cutting, Garry R GR; Rowe, Steven M SM; Collawn, James F JF
Publication Date: 2016

Variant appearance in text: rs188457893
PubMed Link: 28536625
Variant Present in the following documents:
  • 11658_2016_25_MOESM6_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM3_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page