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GJB1 c.644G>A ;(p.R215Q)
Variant ID: X-70444201-G-A
NM_000166.5(
GJB1
):c.644G>A;(p.R215Q)
This variant was identified in 4 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: R215Q
PubMed Link:
30042657
Variant Present in the following documents:
Main text
fnmol-11-00227.pdf
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: GJB1: R215Q
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: GJB1: R215Q
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
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: R215Q
PubMed Link:
22342665
Variant Present in the following documents:
Main text
View BVdb publication page