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SMN1 c.283G>A ;(p.G95R)
Variant ID: 5-70238194-G-A
NM_000344.3(
SMN1
):c.283G>A;(p.G95R)
This variant was identified in 11 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The TUDOR domain of SMN is an H3K79me1 histone mark reader.
Life Science Alliance
Binda, Olivier O; Kimenyi Ishimwe, Aimé Boris AB; Galloy, Maxime M; Jacquet, Karine K; Corpet, Armelle A; Fradet-Turcotte, Amélie A; Côté, Jocelyn J; Lomonte, Patrick P
Publication Date: 2023-06
Variant appearance in text: SMA: G95R
PubMed Link:
36882285
Variant Present in the following documents:
LSA-2022-01752.pdf
View BVdb publication page
Are transient protein-protein interactions more dispensable?
Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04
Variant appearance in text: SMN1: 283G>A; Gly95Arg
PubMed Link:
35404956
Variant Present in the following documents:
pcbi.1010013.s002.xlsx, sheet 2
pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page
Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.
Frontiers In Molecular Neuroscience
Spring, Ashlyn M AM; Raimer, Amanda C AC; Hamilton, Christine D CD; Schillinger, Michela J MJ; Matera, A Gregory AG
Publication Date: 2019
Variant appearance in text: SMA: G95R
PubMed Link:
31156382
Variant Present in the following documents:
Main text
fnmol-12-00113.pdf
View BVdb publication page
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Plos One
Li, Wei W
Publication Date: 2017
Variant appearance in text: SMN1: Gly95Arg
PubMed Link:
28570645
Variant Present in the following documents:
pone.0178519.s002.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: SMA2: G95R
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: SMN1: G95R
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.
Embo Molecular Medicine
Tsuiji, Hitomi H; Iguchi, Yohei Y; Furuya, Asako A; Kataoka, Ayane A; Hatsuta, Hiroyuki H; Atsuta, Naoki N; Tanaka, Fumiaki F; Hashizume, Yoshio Y; Akatsu, Hiroyasu H; Murayama, Shigeo S; Sobue, Gen G; Yamanaka, Koji K
Publication Date: 2013-02
Variant appearance in text: SMN1: G95R
PubMed Link:
23255347
Variant Present in the following documents:
Main text
emmm0005-0221.pdf
View BVdb publication page
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.
Brain Research
Workman, Eileen E; Kolb, Stephen J SJ; Battle, Daniel J DJ
Publication Date: 2012-06-26
Variant appearance in text: SMA: G95R
PubMed Link:
22424789
Variant Present in the following documents:
Main text
View BVdb publication page
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Nature Reviews. Neuroscience
Burghes, Arthur H M AH; Beattie, Christine E CE
Publication Date: 2009-08
Variant appearance in text: SMA: G95R
PubMed Link:
19584893
Variant Present in the following documents:
Main text
View BVdb publication page
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.
Results And Problems In Cell Differentiation
Rossoll, Wilfried W; Bassell, Gary J GJ
Publication Date: 2009
Variant appearance in text: SMA: G95R
PubMed Link:
19343312
Variant Present in the following documents:
Main text
View BVdb publication page
Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Shpargel, Karl B KB; Matera, A Gregory AG
Publication Date: 2005-11-29
Variant appearance in text: SMA: G95R
PubMed Link:
16301532
Variant Present in the following documents:
Main text
View BVdb publication page