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CFTR c.161A>C ;(p.E54A)
Variant ID: 7-117144414-A-C
NM_000492.3(
CFTR
):c.161A>C;(p.E54A)
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:
A cluster of negative charges at the amino terminal tail of CFTR regulates ATP-dependent channel gating.
The Journal Of Physiology
Fu, J J; Ji, H L HL; Naren, A P AP; Kirk, K L KL
Publication Date: 2001-10-15
Variant appearance in text: CFTR: E54A
PubMed Link:
11600681
Variant Present in the following documents:
Main text
View BVdb publication page