MMP17 c.544G>T ;(p.A182S)

Variant ID: 12-132325239-G-T

NM_016155.4(MMP17):c.544G>T;(p.A182S)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


The Relationship Between MMP17 Variants and Ischemic Stroke Risk in the Population from Shaanxi Province in China.

Pharmacogenomics And Personalized Medicine
Li, Weiping W; Liu, Yanqing Y; Xu, Xiaoling X; Zhang, Qi Q; Zhang, Xiao X; Zhang, Jie J; Niu, Xiaochen X; Yang, Shiyao S; Zhang, Xiaobo X; Shi, Wenzhen W; Zhang, Gejuan G; Chang, Mingze M; Tian, Ye Y
Publication Date: 2023

Variant appearance in text: rs6598163
PubMed Link: 36733691
Variant Present in the following documents:
  • Main text
  • pgpm-16-59.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs6598163
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_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: rs6598163
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Identification of candidate protective variants for common diseases and evaluation of their protective potential.

Bmc Genomics
Butler, Joe M JM; Hall, Neil N; Narendran, Niro N; Yang, Yit C YC; Paraoan, Luminita L
Publication Date: 2017-08-03

Variant appearance in text: rs6598163
PubMed Link: 28774272
Variant Present in the following documents:
  • Main text
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: rs6598163
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Whole Exome Sequencing to Identify Genetic Variants Associated with Raised Atherosclerotic Lesions in Young Persons.

Scientific Reports
Hixson, James E JE; Jun, Goo G; Shimmin, Lawrence C LC; Wang, Yizhi Y; Yu, Guoqiang G; Mao, Chunhong C; Warren, Andrew S AS; Howard, Timothy D TD; Heide, Richard S Vander RSV; Van Eyk, Jennifer J; Wang, Yue Y; Herrington, David M DM
Publication Date: 2017-06-22

Variant appearance in text: rs6598163
PubMed Link: 28642624
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_4433.pdf
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs6598163
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-12.pdf
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: rs6598163
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page