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GJB1 c.472C>G ;(p.P158A)
Variant ID: X-70444029-C-G
NM_000166.5(
GJB1
):c.472C>G;(p.P158A)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Neuroscience Letters
Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A
Publication Date: 2021-01-23
Variant appearance in text: GJB1: P158A
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page
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: P158A
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: P158A
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: P158A
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
Gap junctions in inherited human disorders of the central nervous system.
Biochimica Et Biophysica Acta
Abrams, Charles K CK; Scherer, Steven S SS
Publication Date: 2012-08
Variant appearance in text: GJB1: P158A
PubMed Link:
21871435
Variant Present in the following documents:
Main text
View BVdb publication page