BAK1 c.532-35T>C

Variant ID: 6-33541719-A-G

NM_001188.3(BAK1):c.532-35T>C

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs513349
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: BAK1: 532-35T>C; rs513349
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Identification of Genomic Variants Associated with the Risk of Acute Lymphoblastic Leukemia in Native Americans from Brazilian Amazonia.

Journal Of Personalized Medicine
Leitão, Luciana P C LPC; de Carvalho, Darlen C DC; Rodrigues, Juliana C G JCG; Fernandes, Marianne R MR; Wanderley, Alayde V AV; Vinagre, Lui W M S LWMS; da Silva, Natasha M NM; Pastana, Lucas F LF; Gellen, Laura P A LPA; Assunção, Matheus C E MCE; Fernandes, Sweny S M SSM; Pereira, Esdras E B EEB; Ribeiro-Dos-Santos, André M AM; Guerreiro, João F JF; Ribeiro-Dos-Santos, Ândrea Â; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Dos Santos, Ney P C NPC
Publication Date: 2022-05-25

Variant appearance in text: rs513349
PubMed Link: 35743641
Variant Present in the following documents:
  • jpm-12-00856.pdf
View BVdb publication page



Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus.

International Journal Of Molecular Medicine
Papageorgiou, Louis L; Alkenaris, Haris H; Zervou, Maria I MI; Vlachakis, Dimitriοs D; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Bertsias, George G; Goulielmos, George N GN; Eliopoulos, Elias E
Publication Date: 2022-01

Variant appearance in text: rs513349
PubMed Link: 34791504
Variant Present in the following documents:
  • Main text
  • ijmm-49-01-05063.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: BAK1: 532-35T>C; rs513349
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs513349
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: BAK1: 532-35T>C; rs513349
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs513349
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



APOL1 Kidney-Risk Variants Induce Mitochondrial Fission.

Kidney International Reports
Ma, Lijun L; Ainsworth, Hannah C HC; Snipes, James A JA; Murea, Mariana M; Choi, Young A YA; Langefeld, Carl D CD; Parks, John S JS; Bharadwaj, Manish S MS; Chou, Jeff W JW; Hemal, Ashok K AK; Petrovic, Snezana S; Craddock, Ann L AL; Cheng, Dongmei D; Hawkins, Gregory A GA; Miller, Lance D LD; Hicks, Pamela J PJ; Saleem, Moin A MA; Divers, Jasmin J; Molina, Anthony J A AJA; Freedman, Barry I BI
Publication Date: 2020-06

Variant appearance in text: rs513349
PubMed Link: 32518871
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine
Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH
Publication Date: 2018-12

Variant appearance in text: rs513349
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.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: BAK1: 532-35T>C; rs513349
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: rs513349
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs513349
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Apoptosis-Related Single Nucleotide Polymorphisms and the Risk of Non-Small Cell Lung Cancer in Women.

Journal Of Cancer Therapeutics & Research
Pathak, Anand A; Wenzlaff, Angela S AS; Hyland, Paula L PL; Cote, Michele L ML; Keele, Greg R GR; Land, Susan S; Boulton, Matthew L ML; Schwartz, Ann G AG
Publication Date: 2014

Variant appearance in text: rs513349
PubMed Link: 24790730
Variant Present in the following documents:
  • Main text
View BVdb publication page



Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.

American Journal Of Human Genetics
Auer, Paul L PL; Johnsen, Jill M JM; Johnson, Andrew D AD; Logsdon, Benjamin A BA; Lange, Leslie A LA; Nalls, Michael A MA; Zhang, Guosheng G; Franceschini, Nora N; Fox, Keolu K; Lange, Ethan M EM; Rich, Stephen S SS; O'Donnell, Christopher J CJ; Jackson, Rebecca D RD; Wallace, Robert B RB; Chen, Zhao Z; Graubert, Timothy A TA; Wilson, James G JG; Tang, Hua H; Lettre, Guillaume G; Reiner, Alex P AP; Ganesh, Santhi K SK; Li, Yun Y
Publication Date: 2012-11-02

Variant appearance in text: rs513349
PubMed Link: 23103231
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effect of input DNA copy number on genotype call and characterising SNP markers in the humpback whale genome using a nanofluidic array.

Plos One
Bhat, Somanath S; Polanowski, Andrea M AM; Double, Mike C MC; Jarman, Simon N SN; Emslie, Kerry R KR
Publication Date: 2012

Variant appearance in text: rs513349
PubMed Link: 22745712
Variant Present in the following documents:
  • Main text
  • pone.0039181.pdf
View BVdb publication page



High-throughput single nucleotide polymorphism genotyping using nanofluidic Dynamic Arrays.

Bmc Genomics
Wang, Jun J; Lin, Min M; Crenshaw, Andrew A; Hutchinson, Amy A; Hicks, Belynda B; Yeager, Meredith M; Berndt, Sonja S; Huang, Wen-Yi WY; Hayes, Richard B RB; Chanock, Stephen J SJ; Jones, Robert C RC; Ramakrishnan, Ramesh R
Publication Date: 2009-11-28

Variant appearance in text: rs513349
PubMed Link: 19943955
Variant Present in the following documents:
  • Main text
  • 1471-2164-10-561.pdf
View BVdb publication page