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MMAB c.*1230G>T
Variant ID: 12-109993603-C-A
NM_052845.3(
MMAB
):c.*1230G>T
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs11067231
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22
Variant appearance in text: rs11067231
PubMed Link:
31640808
Variant Present in the following documents:
13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
MicroRNA binding mediated Functional sequence variant in 3'-UTR of DNA repair Gene XPC in Age-related Cataract.
Scientific Reports
Zou, Xi X; Kang, Lihua L; Yang, Mei M; Wu, Jian J; Guan, Huaijin H
Publication Date: 2018-10-12
Variant appearance in text: rs11067231
PubMed Link:
30315181
Variant Present in the following documents:
Main text
41598_2018_Article_33071.pdf
View BVdb publication page
Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.
Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10
Variant appearance in text: rs11067231
PubMed Link:
29221171
Variant Present in the following documents:
oncotarget-08-95841-s002.xlsx, sheet 1
oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page
Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.
Lipids In Health And Disease
Sun, Jie J; Qian, Yun Y; Jiang, Yue Y; Chen, Jiaping J; Dai, Juncheng J; Jin, Guangfu G; Wang, Jianming J; Hu, Zhibin Z; Liu, Sijun S; Shen, Chong C; Shen, Hongbing H
Publication Date: 2016-10-04
Variant appearance in text: rs11067231
PubMed Link:
27716295
Variant Present in the following documents:
Main text
12944_2016_Article_348.pdf
View BVdb publication page
Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.
Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20
Variant appearance in text: rs11067231
PubMed Link:
25944692
Variant Present in the following documents:
oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page
Cis-acting polymorphisms affect complex traits through modifications of microRNA regulation pathways.
Plos One
Arnold, Matthias M; Ellwanger, Daniel C DC; Hartsperger, Mara L ML; Pfeufer, Arne A; Stümpflen, Volker V
Publication Date: 2012
Variant appearance in text: rs11067231
PubMed Link:
22606281
Variant Present in the following documents:
Main text
View BVdb publication page
Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.
Human Molecular Genetics
Fogarty, Marie P MP; Xiao, Rui R; Prokunina-Olsson, Ludmila L; Scott, Laura J LJ; Mohlke, Karen L KL
Publication Date: 2010-05-15
Variant appearance in text: rs11067231
PubMed Link:
20159775
Variant Present in the following documents:
Main text
View BVdb publication page