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.




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