MEFV c.986G>A ;(p.R329H)

Variant ID: 16-3299705-C-T

NM_000243.2(MEFV):c.986G>A;(p.R329H)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology
Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S
Publication Date: 2021-12-14

Variant appearance in text: MEFV: R329H; rs104895112
PubMed Link: 34905135
Variant Present in the following documents:
  • 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology
Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S
Publication Date: 2021-12-14

Variant appearance in text: MEFV: R329H; rs104895112
PubMed Link: 34905135
Variant Present in the following documents:
  • 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.

Pediatric Rheumatology Online Journal
Zhong, Linqing L; Wang, Wei W; Li, Ji J; Ma, Mingsheng M; Gou, Lijuan L; Wang, Changyan C; Yu, Zhongxun Z; Zhang, Tiannan T; Dong, Yanqing Y; Wei, Qijiao Q; Song, Hongmei H
Publication Date: 2020-05-12

Variant appearance in text: MEFV: R329H; rs104895112
PubMed Link: 32398039
Variant Present in the following documents:
  • 12969_2020_427_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: 986G>A; rs104895112
PubMed Link: 32082075
Variant Present in the following documents:
  • Main text
  • MI2019-3293145.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: MEFV: R329H
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 64
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 34
View BVdb publication page



A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Cold Spring Harbor Molecular Case Studies
Ji, Jianling J; Shen, Lishuang L; Bootwalla, Moiz M; Quindipan, Catherine C; Tatarinova, Tatiana T; Maglinte, Dennis T DT; Buckley, Jonathan J; Raca, Gordana G; Saitta, Sulagna C SC; Biegel, Jaclyn A JA; Gai, Xiaowu X
Publication Date: 2019-04

Variant appearance in text: MEFV: 986G>A; Arg329His
PubMed Link: 30755392
Variant Present in the following documents:
  • supp_mcs.a003756_Supplemental_Table_1.xlsx, sheet 1
View BVdb publication page



Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.

The Journal Of Clinical Investigation
Mao, Liming L; Kitani, Atsushi A; Similuk, Morgan M; Oler, Andrew J AJ; Albenberg, Lindsey L; Kelsen, Judith J; Aktay, Atiye A; Quezado, Martha M; Yao, Michael M; Montgomery-Recht, Kim K; Fuss, Ivan J IJ; Strober, Warren W
Publication Date: 2018-05-01

Variant appearance in text: MEFV: R329H
PubMed Link: 29408806
Variant Present in the following documents:
  • Main text
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: R329H; rs104895112
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: Arg329His
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: rs104895112
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: MEFV: R329H; rs104895112
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 11
  • NIHMS753666-supplement-2.xlsx, sheet 10
View BVdb publication page



Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever.

Pediatric Rheumatology Online Journal
Heshin-Bekenstein, Merav M; Hashkes, Philip J PJ
Publication Date: 2015-11-10

Variant appearance in text: FMF: R329H
PubMed Link: 26554556
Variant Present in the following documents:
  • Main text
  • 12969_2015_Article_44.pdf
View BVdb publication page



Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

Molecular Genetics & Genomic Medicine
Fujikura, Kohei K
Publication Date: 2015-07

Variant appearance in text: MEFV: Arg329His; rs104895112
PubMed Link: 26247045
Variant Present in the following documents:
  • Main text
  • mgg30003-0272.pdf
View BVdb publication page



Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications
Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I
Publication Date: 2014-09-09

Variant appearance in text: MEFV: R329H
PubMed Link: 25203624
Variant Present in the following documents:
  • ncomms5835-s5.xlsx, sheet 4
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: MEFV: 986G>A; R329H
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 1
  • NIHMS474900-supplement-8.xlsx, sheet 2
View BVdb publication page