MADD c.2251G>C ;(p.V751L)

Variant ID: 11-47306585-G-C

NM_003682.3(MADD):c.2251G>C;(p.V751L)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs1051006
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology
Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ
Publication Date: 2020-04

Variant appearance in text: rs1051006
PubMed Link: 31884074
Variant Present in the following documents:
  • Main text
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs1051006
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1051006
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



MADD-FOLH1 Polymorphisms and Their Haplotypes with Serum Lipid Levels and the Risk of Coronary Heart Disease and Ischemic Stroke in a Chinese Han Population.

Nutrients
Wu, Dong-Feng DF; Yin, Rui-Xing RX; Cao, Xiao-Li XL; Huang, Feng F; Wu, Jin-Zhen JZ; Chen, Wu-Xian WX
Publication Date: 2016-04-08

Variant appearance in text: rs1051006
PubMed Link: 27070640
Variant Present in the following documents:
  • Main text
  • nutrients-08-00208.pdf
View BVdb publication page



Whole-genome re-sequencing for the identification of high contribution susceptibility gene variants in patients with type 2 diabetes.

Molecular Medicine Reports
Sun, Xiaojuan X; Sui, Weiguo W; Wang, Xiaobing X; Hou, Xianliang X; Ou, Minglin M; Dai, Yong Y; Xiang, Yueying Y
Publication Date: 2016-05

Variant appearance in text: rs1051006
PubMed Link: 27035118
Variant Present in the following documents:
  • Main text
  • mmr-13-05-3735.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1051006
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

Circulation. Cardiovascular Genetics
Cornes, Belinda K BK; Brody, Jennifer A JA; Nikpoor, Naghmeh N; Morrison, Alanna C AC; Chu, Huan H; Ahn, Byung Soo BS; Wang, Shuai S; Dauriz, Marco M; Barzilay, Joshua I JI; Dupuis, Josée J; Florez, Jose C JC; Coresh, Josef J; Gibbs, Richard A RA; Kao, W H Linda WHL; Liu, Ching-Ti CT; McKnight, Barbara B; Muzny, Donna D; Pankow, James S JS; Reid, Jeffrey G JG; White, Charles C CC; Johnson, Andrew D AD; Wong, Tien Y TY; Psaty, Bruce M BM; Boerwinkle, Eric E; Rotter, Jerome I JI; Siscovick, David S DS; Sladek, Robert R; Meigs, James B JB
Publication Date: 2014-06

Variant appearance in text: rs1051006
PubMed Link: 24951664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs1051006
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
  • mmc5.xlsx, sheet 3
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs1051006
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.

Nature Genetics
Huyghe, Jeroen R JR; Jackson, Anne U AU; Fogarty, Marie P MP; Buchkovich, Martin L ML; Stančáková, Alena A; Stringham, Heather M HM; Sim, Xueling X; Yang, Lingyao L; Fuchsberger, Christian C; Cederberg, Henna H; Chines, Peter S PS; Teslovich, Tanya M TM; Romm, Jane M JM; Ling, Hua H; McMullen, Ivy I; Ingersoll, Roxann R; Pugh, Elizabeth W EW; Doheny, Kimberly F KF; Neale, Benjamin M BM; Daly, Mark J MJ; Kuusisto, Johanna J; Scott, Laura J LJ; Kang, Hyun Min HM; Collins, Francis S FS; Abecasis, Gonçalo R GR; Watanabe, Richard M RM; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL
Publication Date: 2013-02

Variant appearance in text: rs1051006
PubMed Link: 23263489
Variant Present in the following documents:
  • Main text
View BVdb publication page