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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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