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MEFV c.1382G>A ;(p.R461Q)
Variant ID: 16-3297221-C-T
NM_000243.2(
MEFV
):c.1382G>A;(p.R461Q)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The landscape of somatic mutation in sporadic Chinese colorectal cancer.
Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08
Variant appearance in text: rs145637617
PubMed Link:
29937994
Variant Present in the following documents:
oncotarget-09-27412-s004.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: R461Q; rs145637617
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: Arg461Gln
PubMed Link:
28421071
Variant Present in the following documents:
Main text
fimmu-08-00344.pdf
View BVdb publication page