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.




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