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GJB1 c.223_225delinsGAC ;(p.R75D)
Variant ID: X-70443780-CGG-GAC
NM_000166.5(
GJB1
):c.223_225delinsGAC;(p.R75D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
What's the Function of Connexin 32 in the Peripheral Nervous System?
Frontiers In Molecular Neuroscience
Bortolozzi, Mario M
Publication Date: 2018
Variant appearance in text: GJB1: R75D
PubMed Link:
30042657
Variant Present in the following documents:
Main text
fnmol-11-00227.pdf
View BVdb publication page
Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.
The Journal Of Biological Chemistry
Abrams, Charles K CK; Islam, Mahee M; Mahmoud, Rola R; Kwon, Taekyung T; Bargiello, Thaddeus A TA; Freidin, Mona M MM
Publication Date: 2013-02-01
Variant appearance in text: GJB1: R75D
PubMed Link:
23209285
Variant Present in the following documents:
Main text
View BVdb publication page
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Brain Research
Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X
Publication Date: 2009-06-24
Variant appearance in text: GJB1: R75D
PubMed Link:
19230829
Variant Present in the following documents:
Main text
View BVdb publication page