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MEFV c.97G>T ;(p.V33L)
Variant ID: 16-3306491-C-A
NM_000243.2(
MEFV
):c.97G>T;(p.V33L)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019
Variant appearance in text: MEFV: 97G>T; rs11466016
PubMed Link:
32082075
Variant Present in the following documents:
Main text
MI2019-3293145.pdf
View BVdb publication page
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01
Variant appearance in text: MEFV: 97G>T; Val33Leu
PubMed Link:
30937429
Variant Present in the following documents:
famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page
Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.
Molecular Genetics & Genomic Medicine
Moradian, Mike M MM; Babikyan, Davit D; Banoian, Dion D; Hayrapetyan, Hasmik H; Manvelyan, Hakob H; Avanesian, Nareh N; Sarkisian, Tamara T
Publication Date: 2017-11
Variant appearance in text: FMF: 97G>T; rs11466016
PubMed Link:
29178647
Variant Present in the following documents:
Main text
MGG3-5-742.pdf
View BVdb publication page
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017
Variant appearance in text: MEFV: Val33Leu
PubMed Link:
28421071
Variant Present in the following documents:
Main text
fimmu-08-00344.pdf
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: MEFV: V33L
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
srep31321-s4.xls, sheet 1
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: rs11466016
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: MEFV: V33L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page