MMP2 c.678G>C ;(p.G226=)

Variant ID: 16-55519535-G-C

NM_004530.4(MMP2):c.678G>C;(p.G226=)

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Single-nucleotide polymorphisms of matrix metalloproteinase genes are associated with graft fibrosis after kidney transplantation.

Translational Andrology And Urology
Zhang, Hengcheng H; Gao, Xiang X; Gui, Zeping Z; Suo, Chuanjian C; Tao, Jun J; Han, Zhijian Z; Ju, Xiaobin X; Tan, Ruoyun R; Gu, Min M; Wang, Zijie Z
Publication Date: 2023-03-31

Variant appearance in text: rs1132896
PubMed Link: 37032759
Variant Present in the following documents:
  • Main text
  • tau-12-03-375.pdf
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs1132896
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Association between MMP2 gene polymorphisms and dilated cardiomyopathy in a Chinese Han population.

Esc Heart Failure
Li, Shiyang S; Zeng, Xiaobin X; Wang, Shihai S; Xie, Xiaoshuang X; Lan, Jianjun J
Publication Date: 2023-03-03

Variant appearance in text: rs1132896
PubMed Link: 36866790
Variant Present in the following documents:
  • Main text
  • EHF2-10-1793.pdf
View BVdb publication page



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: rs1132896
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: MMP2: 678G>C; Gly226Gly; rs1132896
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: MMP2: G226G; rs1132896
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: MMP2: G226G; rs1132896
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Impact of MMP2 rs243849 and rs14070 genetic polymorphisms on the ischemic stroke susceptibility in Chinese Shaanxi population.

Frontiers In Neurology
Li, Shilin S; Yang, Shiyao S; Zhang, Xiaobo X; Zhang, Yu Y; Zhang, Jie J; Zhang, Xiao X; Li, Weiping W; Niu, Xiaochen X; Shi, Wenzhen W; Zhang, Gejuan G; Chang, Mingze M; Tian, Ye Y
Publication Date: 2022

Variant appearance in text: rs1132896
PubMed Link: 35959401
Variant Present in the following documents:
  • Main text
  • fneur-13-931437.pdf
View BVdb publication page



Association between Genetic Polymorphisms and Risk of Kidney Posttransplant Diabetes Mellitus: A Systematic Review and Meta-Analysis.

International Journal Of Clinical Practice
Xu, Shan S; Jiang, Zhenwei Z; Hu, Nan N
Publication Date: 2022

Variant appearance in text: rs1132896
PubMed Link: 35685576
Variant Present in the following documents:
  • IJCLP2022-7140024.pdf
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: MMP2: G226G
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.

International Urogynecology Journal
Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L
Publication Date: 2022-01-01

Variant appearance in text: MMP2: G226G; rs1132896
PubMed Link: 34973089
Variant Present in the following documents:
  • 192_2021_4917_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.

International Urogynecology Journal
Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L
Publication Date: 2022-02

Variant appearance in text: MMP2: G226G; rs1132896
PubMed Link: 34973089
Variant Present in the following documents:
  • 192_2021_4917_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.

Scientific Reports
Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G
Publication Date: 2021-03-22

Variant appearance in text: MMP2: 678G>C; Gly226Gly
PubMed Link: 33753779
Variant Present in the following documents:
  • 41598_2021_85930_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: MMP2: 678G>C; G226G; rs1132896
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1132896
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.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: MMP2: 678G>C; Gly226=; rs1132896
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: MMP2: G226G; rs1132896
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: MMP2: 678G>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs1132896
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: MMP2: 678G>C; rs1132896
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Matrix metalloproteinase-2 gene polymorphisms are associated with ischemic stroke in a Hainan population.

Medicine
Niu, Fanglin F; Wei, Boping B; Yan, Mengdan M; Li, Jing J; Ouyang, Yongri Y; Jin, Tianbo T
Publication Date: 2018-09

Variant appearance in text: rs1132896
PubMed Link: 30278505
Variant Present in the following documents:
  • Main text
  • medi-97-e12302.pdf
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: MMP2: 678G>C; G226G; rs1132896
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 2
  • MGG3-6-739-s002.xlsx, sheet 3
View BVdb publication page



Genetic Predictors of ≥5% Weight Loss by Multidisciplinary Advice to Severely Obese Subjects.

Journal Of Nutrigenetics And Nutrigenomics
Aller, Erik E J G EEJG; Mariman, Edwin C M ECM; Bouwman, Freek G FG; van Baak, Marleen A MA
Publication Date: 2017

Variant appearance in text: rs1132896
PubMed Link: 28578327
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: MMP2: G226G; rs1132896
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26

Variant appearance in text: MMP2: G226G; rs1132896
PubMed Link: 27456059
Variant Present in the following documents:
  • srep30457-s2.xls, sheet 2
  • srep30457-s2.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: MMP2: G226G; rs1132896
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
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: MMP2: G226G; rs1132896
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: MMP2: G226G; rs1132896
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: MMP2: G226G
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s003.xls, sheet 3
  • pone.0109576.s001.xls, sheet 3
View BVdb publication page



Gender-specific genetic associations of polymorphisms in ACE, AKR1C2, FTO and MMP2 with weight gain over a 10-year period.

Genes & Nutrition
Bouwman, Freek G FG; Boer, Jolanda M A JM; Imholz, Sandra S; Wang, Ping P; Verschuren, W M Monique WM; Dollé, Martijn E T ME; Mariman, Edwin C M EC
Publication Date: 2014-11

Variant appearance in text: rs1132896
PubMed Link: 25322899
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of MMP2 as a candidate gene for high myopia.

Molecular Vision
Gong, Bo B; Liu, Xiaoqi X; Zhang, Dingding D; Wang, Pu P; Huang, Lulin L; Lin, Ying Y; Lu, Fang F; Ma, Shi S; Cheng, Jing J; Chen, Rong R; Li, Xiaobo X; Lin, He H; Zeng, Guangqun G; Zhu, Xiong X; Hu, Jianbin J; Yang, Zhenglin Z; Shi, Yi Y
Publication Date: 2013

Variant appearance in text: rs1132896
PubMed Link: 23378725
Variant Present in the following documents:
  • Main text
  • mv-v19-121.pdf
View BVdb publication page



Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke.

Bmc Medical Genetics
Manso, Helena H; Krug, Tiago T; Sobral, João J; Albergaria, Isabel I; Gaspar, Gisela G; Ferro, José M JM; Oliveira, Sofia A SA; Vicente, Astrid M AM
Publication Date: 2010-03-11

Variant appearance in text: rs1132896
PubMed Link: 20222942
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-40.pdf
View BVdb publication page



Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population.

The Korean Journal Of Physiology & Pharmacology : Official Journal Of The Korean Physiological Society And The Korean Society Of Pharmacology
Han, Dong Hee DH; Kim, Su Kang SK; Kang, Sungwook S; Choe, Bong-Keun BK; Kim, Keon Sik KS; Chung, Joo-Ho JH
Publication Date: 2008-06

Variant appearance in text: MMP2: Gly226Gly; rs1132896
PubMed Link: 20157405
Variant Present in the following documents:
  • Main text
View BVdb publication page