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GJB1 c.372G>T ;(p.K124N)
Variant ID: X-70443929-G-T
NM_000166.5(
GJB1
):c.372G>T;(p.K124N)
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: K124N
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: K124N
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: K124N
PubMed Link:
19226516
Variant Present in the following documents:
Main text
View BVdb publication page