Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.275A>C ;(p.E92A)
Variant ID: 7-117170954-A-C
NM_000492.3(
CFTR
):c.275A>C;(p.E92A)
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:
Mechanisms of CFTR Folding at the Endoplasmic Reticulum.
Frontiers In Pharmacology
Kim, Soo Jung SJ; Skach, William R WR
Publication Date: 2012
Variant appearance in text: CFTR: E92A
PubMed Link:
23248597
Variant Present in the following documents:
Main text
fphar-03-00201.pdf
View BVdb publication page
p97 functions as an auxiliary factor to facilitate TM domain extraction during CFTR ER-associated degradation.
The Embo Journal
Carlson, Eric J EJ; Pitonzo, David D; Skach, William R WR
Publication Date: 2006-10-04
Variant appearance in text: CFTR: E92A
PubMed Link:
16977321
Variant Present in the following documents:
Main text
View BVdb publication page