JAK3 c.*123T>C

Variant ID: 19-17937429-A-G

NM_000215.3(JAK3):c.*123T>C

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs3008
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



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: rs3008
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs3008
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: rs3008
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Psoriasis: An Immunogenetic Perspective.

Global Medical Genetics
Kocaaga, Ayca A; Kocaaga, Mustafa M
Publication Date: 2022-06

Variant appearance in text: rs3008
PubMed Link: 35707771
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0042-1743259.pdf
View BVdb publication page



Von Hippel-Lindau gene single nucleotide polymorphism (rs1642742) may be related to the occurrence and metastasis of HBV-related hepatocellular carcinoma.

Medicine
Chen, Xuebing X; Zhang, Hao H; Ou, Shimei S; Chen, Huijuan H
Publication Date: 2021-09-03

Variant appearance in text: rs3008
PubMed Link: 34477178
Variant Present in the following documents:
  • Main text
  • medi-100-e27187.pdf
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: rs3008
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mucosal Epithelial Jak Kinases in Health and Diseases.

Mediators Of Inflammation
Kumar, Narendra N; Kuang, Longxiang L; Villa, Ryan R; Kumar, Priyam P; Mishra, Jayshree J
Publication Date: 2021

Variant appearance in text: rs3008
PubMed Link: 33814980
Variant Present in the following documents:
  • Main text
  • MI2021-6618924.pdf
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: rs3008
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Independent Replication on Genome-Wide Association Study Signals Identifies IRF3 as a Novel Locus for Systemic Lupus Erythematosus.

Frontiers In Genetics
Zhang, Feixia F; Wang, Yong-Fei YF; Zhang, Yan Y; Lin, Zhiming Z; Cao, Yujie Y; Zhang, Huoru H; Liu, Zhong-Yi ZY; Morris, David L DL; Sheng, Yujun Y; Cui, Yong Y; Zhang, Xuejun X; Vyse, Timothy J TJ; Lau, Yu Lung YL; Yang, Wanling W; Chen, Yanhui Y
Publication Date: 2020

Variant appearance in text: rs3008
PubMed Link: 32719713
Variant Present in the following documents:
  • Main text
  • fgene-11-00600.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs3008
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs3008
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs3008
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Interleukin-21 receptor gene polymorphism is associated with hepatitis B virus-related hepatocellular carcinoma in Chinese patients.

Journal Of Clinical Laboratory Analysis
Liu, Tangyuheng T; Song, Jiajia J; Zhang, Mei M; Li, Siyue S; Zhang, Jinya J; Hu, Xuejiao X; Zhao, Zhenzhen Z; Peng, Wu W; Wu, Qian Q; Bai, Hao H; Li, Yinyu Y; Lu, Xiaojun X; Ying, Binwu B
Publication Date: 2019-06

Variant appearance in text: rs3008
PubMed Link: 30758075
Variant Present in the following documents:
  • Main text
  • JCLA-33-e22860.pdf
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: rs3008
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs3008
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs3008
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



A preliminary study of new single polymorphisms in the T helper type 17 pathway for psoriasis in the Korean population.

Clinical And Experimental Immunology
Kim, S Y SY; Hur, M S MS; Choi, B G BG; Kim, M J MJ; Lee, Y W YW; Choe, Y B YB; Ahn, K J KJ
Publication Date: 2017-02

Variant appearance in text: rs3008
PubMed Link: 27774581
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human Cytokine Genetic Variants Associated With HBsAg Reverse Seroconversion in Rituximab-Treated Non-Hodgkin Lymphoma Patients.

Medicine
Hsiao, Liang-Tsai LT; Wang, Hao-Yuan HY; Yang, Ching-Fen CF; Chiou, Tzeon-Jye TJ; Gau, Jyh-Pyng JP; Yu, Yuan-Bin YB; Liu, Hsiao-Ling HL; Chang, Wen-Chun WC; Chen, Po-Min PM; Tzeng, Cheng-Hwai CH; Chan, Yu-Jiun YJ; Yang, Muh-Hwa MH; Liu, Jin-Hwang JH; Huang, Yi-Hsiang YH
Publication Date: 2016-03

Variant appearance in text: rs3008
PubMed Link: 26986131
Variant Present in the following documents:
  • medi-95-e3064-s001.pdf
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: rs3008
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genetic polymorphisms in IL10RA and TNF modify the association between blood transfusion and risk of non-Hodgkin lymphoma.

American Journal Of Hematology
Bi, Xiaofeng X; Zheng, Tongzhang T; Lan, Qing Q; Xu, Zhijian Z; Chen, Yingtai Y; Zhu, Gongjian G; Foss, Francine F; Kim, Christopher C; Dai, Min M; Zhao, Ping P; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Deng, Qian Q; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y
Publication Date: 2012-08

Variant appearance in text: rs3008
PubMed Link: 22649007
Variant Present in the following documents:
  • Main text
View BVdb publication page



Occupational solvent exposure, genetic variation in immune genes, and the risk for non-Hodgkin lymphoma.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
Deng, Qian Q; Zheng, Tongzhang T; Lan, Qing Q; Lan, Yajia Y; Holford, Theodore T; Chen, Yingtai Y; Dai, Min M; Leaderer, Brian B; Boyle, Peter P; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y
Publication Date: 2013-01

Variant appearance in text: rs3008
PubMed Link: 22609637
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in Th1/Th2 cytokine genes, hormone replacement therapy, and risk of non-Hodgkin lymphoma.

Frontiers In Oncology
Zhu, Gongjian G; Pan, Dongsheng D; Zheng, Tongzhang T; Lan, Qing Q; Chen, Xuezhong X; Chen, Yingtai Y; Kim, Christopher C; Bi, Xiaofeng X; Holford, Theodore T; Boyle, Peter P; Leaderer, Brian B; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y
Publication Date: 2011-07-28

Variant appearance in text: rs3008
PubMed Link: 22180854
Variant Present in the following documents:
  • Main text
  • fonc-01-00021.pdf
View BVdb publication page



Cytokine polymorphisms in Th1/Th2 pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

Blood
Chen, Yingtai Y; Zheng, Tongzhang T; Lan, Qing Q; Foss, Francine F; Kim, Christopher C; Chen, Xuezhong X; Dai, Min M; Li, Yumin Y; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y
Publication Date: 2011-01-13

Variant appearance in text: rs3008
PubMed Link: 20952689
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.

Blood
Colt, Joanne S JS; Rothman, Nathaniel N; Severson, Richard K RK; Hartge, Patricia P; Cerhan, James R JR; Chatterjee, Nilanjan N; Cozen, Wendy W; Morton, Lindsay M LM; De Roos, Anneclaire J AJ; Davis, Scott S; Chanock, Stephen S; Wang, Sophia S SS
Publication Date: 2009-02-26

Variant appearance in text: rs3008
PubMed Link: 19066394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.

The Journal Of Infectious Diseases
Wang, Sophia S SS; Bratti, M Concepcion MC; Rodríguez, Ana Cecilia AC; Herrero, Rolando R; Burk, Robert D RD; Porras, Carolina C; González, Paula P; Sherman, Mark E ME; Wacholder, Sholom S; Lan, Z Elizabeth ZE; Schiffman, Mark M; Chanock, Stephen J SJ; Hildesheim, Allan A
Publication Date: 2009-01-01

Variant appearance in text: rs3008
PubMed Link: 19012493
Variant Present in the following documents:
  • Main text
View BVdb publication page



Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.

Blood
Habermann, Thomas M TM; Wang, Sophia S SS; Maurer, Matthew J MJ; Morton, Lindsay M LM; Lynch, Charles F CF; Ansell, Stephen M SM; Hartge, Patricia P; Severson, Richard K RK; Rothman, Nathaniel N; Davis, Scott S; Geyer, Susan M SM; Cozen, Wendy W; Chanock, Stephen J SJ; Cerhan, James R JR
Publication Date: 2008-10-01

Variant appearance in text: rs3008
PubMed Link: 18633131
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.

Blood
Cerhan, James R JR; Wang, Sophia S; Maurer, Matthew J MJ; Ansell, Stephen M SM; Geyer, Susan M SM; Cozen, Wendy W; Morton, Lindsay M LM; Davis, Scott S; Severson, Richard K RK; Rothman, Nathaniel N; Lynch, Charles F CF; Wacholder, Sholom S; Chanock, Stephen J SJ; Habermann, Thomas M TM; Hartge, Patricia P
Publication Date: 2007-06-15

Variant appearance in text: rs3008
PubMed Link: 17327408
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.

Blood
Lan, Qing Q; Zheng, Tongzhang T; Rothman, Nathaniel N; Zhang, Yawei Y; Wang, Sophia S SS; Shen, Min M; Berndt, Sonja I SI; Zahm, Shelia H SH; Holford, Theodore R TR; Leaderer, Brian B; Yeager, Meredith M; Welch, Robert R; Boyle, Peter P; Zhang, Bing B; Zou, Kaiyong K; Zhu, Yong Y; Chanock, Stephen S
Publication Date: 2006-05-15

Variant appearance in text: rs3008
PubMed Link: 16449530
Variant Present in the following documents:
  • Main text
View BVdb publication page