MMP2 c.833-221G>A

Variant ID: 16-55522234-G-A

NM_004530.4(MMP2):c.833-221G>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: rs2241146
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_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: rs2241146
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



MMP2 Polymorphisms and Colorectal Cancer Susceptibility in a Chinese Han Population.

International Journal Of General Medicine
Liu, Xu X; Yang, Kelaier K; Li, Zhangfu Z; Liu, Jikui J
Publication Date: 2022

Variant appearance in text: rs2241146
PubMed Link: 35818579
Variant Present in the following documents:
  • Main text
  • ijgm-15-6009.pdf
View BVdb publication page



MMP2 and MMP10 Polymorphisms Are Related to Steroid-Induced Osteonecrosis of the Femoral Head among Chinese Han Population.

Biomed Research International
Tian, Ye Y; An, Feimeng F; Wang, Jiaqi J; Liu, Chang C; Wu, Huiqiang H; Cao, Yuju Y; Wang, Jianzhong J; Wang, Guoqiang G
Publication Date: 2019

Variant appearance in text: rs2241146
PubMed Link: 31192258
Variant Present in the following documents:
  • Main text
  • BMRI2019-8298193.pdf
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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: 833-221G>A; rs2241146
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
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: rs2241146
PubMed Link: 23378725
Variant Present in the following documents:
  • Main text
  • mv-v19-121.pdf
View BVdb publication page



Matrix metalloproteinase-2 polymorphisms and breast cancer susceptibility.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Beeghly-Fadiel, Alicia A; Lu, Wei W; Long, Ji-Rong JR; Shu, Xiao-ou XO; Zheng, Ying Y; Cai, Qiuyin Q; Gao, Yu-Tang YT; Zheng, Wei W
Publication Date: 2009-06

Variant appearance in text: rs2241146
PubMed Link: 19454611
Variant Present in the following documents:
  • Main text
View BVdb publication page