Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.1288_1289delinsGG ;(p.F430G)
Variant ID: 7-117188773-TT-GG
NM_000492.3(
CFTR
):c.1288_1289delinsGG;(p.F430G)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The two ATP binding sites of cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics.
The Journal Of General Physiology
Zhou, Zhen Z; Wang, Xiaohui X; Liu, Hao-Yang HY; Zou, Xiaoqin X; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2006-10
Variant appearance in text: CFTR: F430G
PubMed Link:
16966475
Variant Present in the following documents:
Main text
jgp1280413.pdf
View BVdb publication page