Bibliome.ai browser hg19
Search
About
Stats
FAQ
GJB1 c.374T>A ;(p.V125D)
Variant ID: X-70443931-T-A
NM_000166.5(
GJB1
):c.374T>A;(p.V125D)
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:
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: V125D
PubMed Link:
33359733
Variant Present in the following documents:
Main text
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: V125D
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: V125D
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
Trifluoroethanol reveals helical propensity at analogous positions in cytoplasmic domains of three connexins.
Biopolymers
Fort, Alfredo G AG; Spray, David C DC
Publication Date: 2009
Variant appearance in text: CMTX: V125D
PubMed Link:
19226516
Variant Present in the following documents:
Main text
View BVdb publication page