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GJB1 c.505G>A ;(p.D169N)
Variant ID: X-70444062-G-A
NM_000166.5(
GJB1
):c.505G>A;(p.D169N)
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:
Structural basis for the selective permeability of channels made of communicating junction proteins.
Biochimica Et Biophysica Acta
Ek-Vitorin, Jose F JF; Burt, Janis M JM
Publication Date: 2013-01
Variant appearance in text: CX32: D169N
PubMed Link:
22342665
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular basis of calcium regulation in connexin-32 hemichannels.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Gómez-Hernández, Juan M JM; de Miguel, Marta M; Larrosa, Belen B; González, Daniel D; Barrio, Luis C LC
Publication Date: 2003-12-23
Variant appearance in text: CMTX: D169N
PubMed Link:
14663144
Variant Present in the following documents:
Main text
View BVdb publication page