PARP1 c.2963+172C>T

Variant ID: 1-226549498-G-A

NM_001618.3(PARP1):c.2963+172C>T

This variant was identified in 13 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: PARP1: 2963+172C>T; rs2271347
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
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: rs2271347
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Post-concussion symptoms and chronic pain after mild traumatic brain injury are modulated by multiple locus effect in the BDNF gene through the expression of antisense: A pilot prospective control study.

Canadian Journal Of Pain = Revue Canadienne De La Douleur
Khoury, Samar S; Segal, Julia J; Parisien, Marc M; Noreau, Anne A; Dion, Patrick P; Benavides, Rodrigo R; Giguère, Jean-François JF; Denis, Ronald R; Belfer, Inna I; Diatchenko, Luda L; Rouleau, Guy A GA; Lavigne, Gilles J GJ
Publication Date: 2017

Variant appearance in text: rs2271347
PubMed Link: 35005347
Variant Present in the following documents:
  • Main text
  • UCJP_1_1362942.pdf
View BVdb publication page



The genetic basis of inter-individual variation in recovery from traumatic brain injury.

Npj Regenerative Medicine
Cortes, Daniel D; Pera, Martin F MF
Publication Date: 2021-01-21

Variant appearance in text: rs2271347
PubMed Link: 33479258
Variant Present in the following documents:
  • 41536_2020_114_MOESM1_ESM.pdf
View BVdb publication page



Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports
Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H
Publication Date: 2020-09

Variant appearance in text: rs2271347
PubMed Link: 32705272
Variant Present in the following documents:
  • Supplementary_Data1.xlsx, sheet 1
View BVdb publication page



Genetic Influences on Patient-Oriented Outcomes in Traumatic Brain Injury: A Living Systematic Review of Non-Apolipoprotein E Single-Nucleotide Polymorphisms.

Journal Of Neurotrauma
Zeiler, Frederick A FA; McFadyen, Charles C; Newcombe, Virginia F J VFJ; Synnot, Anneliese A; Donoghue, Emma L EL; Ripatti, Samuli S; Steyerberg, Ewout W EW; Gruen, Russel L RL; McAllister, Thomas W TW; Rosand, Jonathan J; Palotie, Aarno A; Maas, Andrew I R AIR; Menon, David K DK
Publication Date: 2021-04-15

Variant appearance in text: rs2271347
PubMed Link: 29799308
Variant Present in the following documents:
  • Main text
  • neu.2017.5583.pdf
View BVdb publication page



Trajectories of Cognitive Function and Associated Phenotypic and Genotypic Factors in Breast Cancer.

Oncology Nursing Forum
Bender, Catherine M CM; Merriman, John D JD; Sereika, Susan M SM; Gentry, Amanda L AL; Casillo, Frances E FE; Koleck, Theresa A TA; Rosenzweig, Margaret Q MQ; Brufsky, Adam M AM; McAuliffe, Priscilla P; Zhu, Yehui Y; Conley, Yvette P YP
Publication Date: 2018-05-01

Variant appearance in text: rs2271347
PubMed Link: 29683114
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Effect of Poly(ADP-ribose) Polymerase-1 Gene 3'Untranslated Region Polymorphism in Colorectal Cancer Risk among Saudi Cohort.

Disease Markers
Alhadheq, Abdullah M AM; Purusottapatnam Shaik, Jilani J; Alamri, Abdullah A; Aljebreen, Abdulrahman M AM; Alharbi, Othman O; Almadi, Majid A MA; Alhadeq, Faten F; Azzam, Nahla A NA; Semlali, Abdelhabib A; Alanazi, Mohammad M; Bazzi, Mohammad D MD; Reddy Parine, Narasimha N
Publication Date: 2016

Variant appearance in text: rs2271347
PubMed Link: 27746584
Variant Present in the following documents:
  • Main text
  • DM2016-8289293.pdf
View BVdb publication page



Polymorphisms in DNA repair and oxidative stress genes associated with pre-treatment cognitive function in breast cancer survivors: an exploratory study.

Springerplus
Koleck, Theresa A TA; Bender, Catherine M CM; Sereika, Susan M SM; Brufsky, Adam M AM; Lembersky, Barry C BC; McAuliffe, Priscilla F PF; Puhalla, Shannon L SL; Rastogi, Priya P; Conley, Yvette P YP
Publication Date: 2016

Variant appearance in text: rs2271347
PubMed Link: 27099827
Variant Present in the following documents:
  • Main text
  • 40064_2016_Article_2061.pdf
View BVdb publication page



Therapeutic applications of PARP inhibitors: anticancer therapy and beyond.

Molecular Aspects Of Medicine
Curtin, Nicola J NJ; Szabo, Csaba C
Publication Date: 2013-12

Variant appearance in text: rs2271347
PubMed Link: 23370117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and outcomes after traumatic brain injury (TBI): what do we know about pediatric TBI?

Journal Of Pediatric Rehabilitation Medicine
Kurowski, Brad B; Martin, Lisa J LJ; Wade, Shari L SL
Publication Date: 2012

Variant appearance in text: rs2271347
PubMed Link: 23023254
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk.

Environmental Health Perspectives
Barry, Kathryn Hughes KH; Koutros, Stella S; Berndt, Sonja I SI; Andreotti, Gabriella G; Hoppin, Jane A JA; Sandler, Dale P DP; Burdette, Laurie A LA; Yeager, Meredith M; Freeman, Laura E Beane LE; Lubin, Jay H JH; Ma, Xiaomei X; Zheng, Tongzhang T; Alavanja, Michael C R MC
Publication Date: 2011-12

Variant appearance in text: rs2271347
PubMed Link: 21810555
Variant Present in the following documents:
  • ehp.1103454.s001.pdf
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Influence of PARP-1 polymorphisms in patients after traumatic brain injury.

Journal Of Neurotrauma
Sarnaik, Ajit A AA; Conley, Yvette P YP; Okonkwo, David O DO; Barr, Taura L TL; Fink, Ericka L EL; Szabo, Csaba C; Kochanek, Patrick M PM; Clark, Robert S B RS
Publication Date: 2010-03

Variant appearance in text: rs2271347
PubMed Link: 19925161
Variant Present in the following documents:
  • Main text
View BVdb publication page