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MEFV c.2229C>A ;(p.F743L)
Variant ID: 16-3293258-G-T
NM_000243.2(
MEFV
):c.2229C>A;(p.F743L)
This variant was identified in 5 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: Phe743Leu
PubMed Link:
35480407
Variant Present in the following documents:
PAMJ-41-121.pdf
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: F743L
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Nature
,
Publication Date: 2019-12
Variant appearance in text: MEFV: F743L
PubMed Link:
31802016
Variant Present in the following documents:
41586_2019_1793_MOESM3_ESM.xlsx, sheet 13
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: Phe743Leu
PubMed Link:
28421071
Variant Present in the following documents:
Main text
fimmu-08-00344.pdf
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: F743L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page