Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.1001_1002delinsAT ;(p.R334H)
Variant ID: 7-117180285-GG-AT
NM_000492.3(
CFTR
):c.1001_1002delinsAT;(p.R334H)
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:
Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.
The Journal Of Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-06-01
Variant appearance in text: CFTR: R334H
PubMed Link:
12679372
Variant Present in the following documents:
Main text
View BVdb publication page
CFTR: covalent and noncovalent modification suggests a role for fixed charges in anion conduction.
The Journal Of General Physiology
Smith, S S SS; Liu, X X; Zhang, Z R ZR; Sun, F F; Kriewall, T E TE; McCarty, N A NA; Dawson, D C DC
Publication Date: 2001-10
Variant appearance in text: CFTR: R334H
PubMed Link:
11585852
Variant Present in the following documents:
Main text
8480.pdf
View BVdb publication page