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MEFV c.2060G>A ;(p.G687D)
Variant ID: 16-3293427-C-T
NM_000243.2(
MEFV
):c.2060G>A;(p.G687D)
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:
Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.
The Pan African Medical Journal
Missoum, Hakima H; Adadi, Najlae N; Alami, Mohammed M; Toufik, Hamza H; Bouyahya, Abdelhakim A; Laarabi, Fatima-Zahra FZ; Bachir, Fatima F; Maghraoui, Abdellah El AE; Bakri, Youssef Y
Publication Date: 2022
Variant appearance in text: MEFV: 2060G>A
PubMed Link:
35480407
Variant Present in the following documents:
PAMJ-41-121.pdf
View BVdb publication page
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.
Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02
Variant appearance in text: MEFV: 2060G>A; Gly687Asp; rs387907570
PubMed Link:
34078906
Variant Present in the following documents:
41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: MEFV: G687D
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: Gly687Asp
PubMed Link:
28421071
Variant Present in the following documents:
Main text
fimmu-08-00344.pdf
View BVdb publication page