CFTR c.495A>T ;(p.L165F)

Variant ID: 7-117174335-A-T

NM_000492.3(CFTR):c.495A>T;(p.L165F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.

The Journal Of Biological Chemistry
Kanack, Adam J AJ; Newsom, Oliver J OJ; Scaglione, Kenneth Matthew KM
Publication Date: 2018-02-23

Variant appearance in text: CFTR: L165F
PubMed Link: 29317501
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variability in E6, E7 and L1 genes of Human Papillomavirus 62 and its prevalence in Mexico.

Infectious Agents And Cancer
Artaza-Irigaray, Cristina C; Flores-Miramontes, María Guadalupe MG; Olszewski, Dominik D; Magaña-Torres, María Teresa MT; López-Cardona, María Guadalupe MG; Leal-Herrera, Yelda Aurora YA; Piña-Sánchez, Patricia P; Jave-Suárez, Luis Felipe LF; Aguilar-Lemarroy, Adriana A
Publication Date: 2017

Variant appearance in text: CFTR: 495A>T
PubMed Link: 28270859
Variant Present in the following documents:
  • 13027_2017_Article_125.pdf
View BVdb publication page