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GJB1 c.571A>G ;(p.T191A)
Variant ID: X-70444128-A-G
NM_000166.5(
GJB1
):c.571A>G;(p.T191A)
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:
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: T191A
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: T191A
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Huang, Yan Y; Sirkowski, Erich E EE; Stickney, John T JT; Scherer, Steven S SS
Publication Date: 2005-08-03
Variant appearance in text: GJB1: T191A
PubMed Link:
16079393
Variant Present in the following documents:
Main text
View BVdb publication page