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.




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