SERPINA3 c.754C>T ;(p.P252S)

Variant ID: 14-95085642-C-T

NM_001085.4(SERPINA3):c.754C>T;(p.P252S)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population.

International Journal Of Molecular Sciences
Ponce-Gallegos, Marco Antonio MA; Pérez-Rubio, Gloria G; García-Carmona, Adriana A; García-Gómez, Jesús J; Hernández-Zenteno, Rafael R; Ramírez-Venegas, Alejandra A; Falfán-Valencia, Ramcés R
Publication Date: 2019-12-27

Variant appearance in text: rs17473
PubMed Link: 31892136
Variant Present in the following documents:
  • Main text
  • ijms-21-00195.pdf
View BVdb publication page



ITS Annual Scientific Meeting 2016.

Irish Journal Of Medical Science
Publication Date: 2016-11

Variant appearance in text: rs17473
PubMed Link: 27783264
Variant Present in the following documents:
  • 11845_2016_Article_1497.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: rs17473
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs17473
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs17473
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Genetic determinants of chronic obstructive pulmonary disease in South Indian male smokers.

Plos One
Arja, Cholendra C; Ravuri, Rajasekhara Reddy RR; Pulamaghatta, Venugopal N VN; Surapaneni, Krishna Mohan KM; Raya, Premanand P; Adimoolam, Chandrasekhar C; Kanala, Kodanda Reddy KR
Publication Date: 2014

Variant appearance in text: rs17473
PubMed Link: 24587150
Variant Present in the following documents:
  • Main text
  • pone.0089957.pdf
View BVdb publication page



Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases.

Bmc Medical Genetics
Fujimoto, Koichi K; Ikeda, Shinobu S; Arai, Tomio T; Tanaka, Noriko N; Kumasaka, Toshio T; Ishii, Takeo T; Kida, Kozui K; Muramatsu, Masaaki M; Sawabe, Motoji M
Publication Date: 2010-11-10

Variant appearance in text: rs17473
PubMed Link: 21067581
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-159.pdf
View BVdb publication page



Chronic obstructive pulmonary disease: towards pharmacogenetics.

Genome Medicine
Wood, Alice M AM; Tan, See Ling SL; Stockley, Robert A RA
Publication Date: 2009-11-30

Variant appearance in text: rs17473
PubMed Link: 19951401
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of chronic obstructive pulmonary disease.

Respiratory Research
Wood, Alice M AM; Stockley, Robert A RA
Publication Date: 2006-10-20

Variant appearance in text: rs17473
PubMed Link: 17054776
Variant Present in the following documents:
  • Main text
  • 1465-9921-7-130.pdf
View BVdb publication page



Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.

American Journal Of Respiratory Cell And Molecular Biology
Hersh, Craig P CP; Demeo, Dawn L DL; Lange, Christoph C; Litonjua, Augusto A AA; Reilly, John J JJ; Kwiatkowski, David D; Laird, Nan N; Sylvia, Jody S JS; Sparrow, David D; Speizer, Frank E FE; Weiss, Scott T ST; Silverman, Edwin K EK
Publication Date: 2005-07

Variant appearance in text: rs17473
PubMed Link: 15817713
Variant Present in the following documents:
  • Main text
View BVdb publication page