CFTR c.1518C>A ;(p.I506=)

Variant ID: 7-117199643-C-A

NM_000492.3(CFTR):c.1518C>A;(p.I506=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: rs1800092
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research
Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV
Publication Date: 2021-01

Variant appearance in text: CFTR: I506I
PubMed Link: 32767816
Variant Present in the following documents:
  • PCMR-34-122-s006.xlsx, sheet 1
View BVdb publication page



Bicodon bias can determine the role of synonymous SNPs in human diseases.

Bmc Genomics
McCarthy, Christina C; Carrea, Alejandra A; Diambra, Luis L
Publication Date: 2017-03-13

Variant appearance in text: rs1800092
PubMed Link: 28288557
Variant Present in the following documents:
  • Main text
  • 12864_2017_Article_3609.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: rs1800092
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page