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CFTR c.1012_1013delinsCA ;(p.T338H)
Variant ID: 7-117180296-AC-CA
NM_000492.3(
CFTR
):c.1012_1013delinsCA;(p.T338H)
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:
CFTR: a cysteine at position 338 in TM6 senses a positive electrostatic potential in the pore.
Biophysical Journal
Liu, Xuehong X; Zhang, Zhi-Ren ZR; Fuller, Matthew D MD; Billingsley, Joshua J; McCarty, Nael A NA; Dawson, David C DC
Publication Date: 2004-12
Variant appearance in text: CFTR: T338H
PubMed Link:
15361410
Variant Present in the following documents:
Main text
View BVdb publication page