SERPINE1 c.49G>A ;(p.V17I)

Variant ID: 7-100771723-G-A

NM_000602.4(SERPINE1):c.49G>A;(p.V17I)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Laboratory biomarkers of delayed cerebral ischemia following subarachnoid hemorrhage: A systematic review.

Journal Of Circulating Biomarkers
Tjerkstra, Maud A MA; Labib, Homeyra H; Coert, Bert A BA; Spijker, René R; Coutinho, Jonathan M JM; Vandertop, W Peter WP; Verbaan, Dagmar D
Publication Date: 2023

Variant appearance in text: rs6090
PubMed Link: 37056917
Variant Present in the following documents:
  • Main text
  • jcb-12-17.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: SERPINE1: V17I
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



Association of SNPs in the PAI1 Gene with Disease Recurrence and Clinical Outcome in Bladder Cancer.

International Journal Of Molecular Sciences
Murakami, Kaoru K; Furuya, Hideki H; Hokutan, Kanani K; Goodison, Steve S; Pagano, Ian I; Chen, Runpu R; Shen, Cheng-Huang CH; Chan, Michael W Y MWY; Ng, Chi Fai CF; Kobayashi, Takashi T; Ogawa, Osamu O; Miyake, Makito M; Thornquist, Mark M; Shimizu, Yoshiko Y; Hayashi, Kazukuni K; Wang, Zhangwei Z; Yu, Herbert H; Rosser, Charles J CJ
Publication Date: 2023-03-03

Variant appearance in text: PAI1: V17I; rs6090
PubMed Link: 36902377
Variant Present in the following documents:
  • Main text
  • ijms-24-04943.pdf
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: SERPINE1: V17I; rs6090
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 5
  • can-22-2224_table_s8_suppst8.xlsx, sheet 8
  • can-22-2224_table_s8_suppst8.xlsx, sheet 17
View BVdb publication page



A Review of Genetic Polymorphisms and Susceptibilities to Complications after Aneurysmal Subarachnoid Hemorrhage.

International Journal Of Molecular Sciences
Medina-Suárez, Jose J; Rodríguez-Esparragón, Francisco F; Sosa-Pérez, Coralia C; Cazorla-Rivero, Sara S; Torres-Mata, Laura B LB; Jiménez-O'Shanahan, Aruma A; Clavo, Bernardino B; Morera-Molina, Jesús J
Publication Date: 2022-12-06

Variant appearance in text: rs6090
PubMed Link: 36499752
Variant Present in the following documents:
  • Main text
  • ijms-23-15427.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: SERPINE1: V17I
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic modifiers of long-term survival in sickle cell anemia.

Clinical And Translational Medicine
Wonkam, Ambroise A; Chimusa, Emile R ER; Mnika, Khuthala K; Pule, Gift Dineo GD; Ngo Bitoungui, Valentina Josiane VJ; Mulder, Nicola N; Shriner, Daniel D; Rotimi, Charles N CN; Adeyemo, Adebowale A
Publication Date: 2020-08

Variant appearance in text: SERPINE1: V17I; rs6090
PubMed Link: 32898326
Variant Present in the following documents:
  • CTM2-10-e152-s001.pdf
View BVdb publication page



Haplotype analysis of SERPINE1 gene: Risk for aneurysmal subarachnoid hemorrhage and clinical outcomes.

Molecular Genetics & Genomic Medicine
Lin, Mingkuan M; Griessenauer, Christoph J CJ; Starke, Robert M RM; Tubbs, R Shane RS; Shoja, Mohammadali M MM; Foreman, Paul M PM; Vyas, Nilesh A NA; Walters, Beverly C BC; Harrigan, Mark R MR; Hendrix, Philipp P; Fisher, Winfield S WS; Pittet, Jean-Francois JF; Mathru, Mali M; Lipsky, Robert H RH
Publication Date: 2019-08

Variant appearance in text: rs6090
PubMed Link: 31268630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteolysis is the most fundamental property of malignancy and its inhibition may be used therapeutically (Review).

International Journal Of Molecular Medicine
Wyganowska-Świątkowska, Marzena M; Tarnowski, Mateusz M; Murtagh, Daniel D; Skrzypczak-Jankun, Ewa E; Jankun, Jerzy J
Publication Date: 2019-01

Variant appearance in text: PAI: Val17Ile
PubMed Link: 30431071
Variant Present in the following documents:
  • ijmm-43-01-0015.pdf
View BVdb publication page



A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics
Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V
Publication Date: 2017-08-02

Variant appearance in text: SERPINE1: 49G>A; Val17Ile
PubMed Link: 28768485
Variant Present in the following documents:
  • 12881_2017_440_MOESM1_ESM.xlsx, sheet 1
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: rs6090
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, 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: SERPINE1: V17I; rs6090
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SERPINE1: V17I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: SERPINE1: V17I; rs6090
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder.

Autism Research : Official Journal Of The International Society For Autism Research
Campbell, Daniel B DB; Li, Chun C; Sutcliffe, James S JS; Persico, Antonio M AM; Levitt, Pat P
Publication Date: 2008-06

Variant appearance in text: SERPINE1: Val17Ile; rs6090
PubMed Link: 19360663
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction.

American Heart Journal
Knowles, Joshua W JW; Wang, Huijan H; Itakura, Haruka H; Southwick, Audrey A; Myers, Richard M RM; Iribarren, Carlos C; Fortmann, Stephen P SP; Go, Alan S AS; Quertermous, Thomas T; Hlatky, Mark A MA
Publication Date: 2007-12

Variant appearance in text: rs6090
PubMed Link: 18035074
Variant Present in the following documents:
  • Main text
View BVdb publication page



4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.

American Journal Of Respiratory And Critical Care Medicine
Yende, Sachin S; Angus, Derek C DC; Ding, Jingzhong J; Newman, Anne B AB; Kellum, John A JA; Li, Rongling R; Ferrell, Robert E RE; Zmuda, Joseph J; Kritchevsky, Stephen B SB; Harris, Tamara B TB; Garcia, Melissa M; Yaffe, Kristine K; Wunderink, Richard G RG; ,
Publication Date: 2007-12-01

Variant appearance in text: PAI: Val17Ile; rs6090
PubMed Link: 17761618
Variant Present in the following documents:
  • Main text
View BVdb publication page