ATRIP c.1975-17C>A

Variant ID: 3-48505964-C-A

NM_130384.2(ATRIP):c.1975-17C>A

This variant was identified in 13 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: rs2242150
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Biomarkers in Neuropsychiatric Systemic Lupus Erythematosus: A Systematic Literature Review of the Last Decade.

Brain Sciences
Lindblom, Julius J; Mohan, Chandra C; Parodis, Ioannis I
Publication Date: 2022-01-30

Variant appearance in text: rs2242150
PubMed Link: 35203955
Variant Present in the following documents:
  • Main text
  • brainsci-12-00192.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: ATRIP: 1975-17C>A; rs2242150
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: rs2242150
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.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: rs2242150
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.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: rs2242150
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget
Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X
Publication Date: 2017-04-04

Variant appearance in text: rs2242150
PubMed Link: 28009986
Variant Present in the following documents:
  • oncotarget-08-22741-s003.xlsx, sheet 1
View BVdb publication page



Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype.

Journal Of Immunology Research
Ceccarelli, Fulvia F; Perricone, Carlo C; Borgiani, Paola P; Ciccacci, Cinzia C; Rufini, Sara S; Cipriano, Enrica E; Alessandri, Cristiano C; Spinelli, Francesca Romana FR; Sili Scavalli, Antonio A; Novelli, Giuseppe G; Valesini, Guido G; Conti, Fabrizio F
Publication Date: 2015

Variant appearance in text: rs2242150
PubMed Link: 26798662
Variant Present in the following documents:
  • Main text
  • JIR2015-745647.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: rs2242150
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: rs2242150
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Restriction genes for retroviruses influence the risk of multiple sclerosis.

Plos One
Nexø, Bjørn A BA; Hansen, Bettina B; Nissen, Kari K KK; Gundestrup, Lisa L; Terkelsen, Thorkild T; Villesen, Palle P; Bahrami, Shervin S; Petersen, Thor T; Pedersen, Finn S FS; Laska, Magdalena J MJ
Publication Date: 2013

Variant appearance in text: rs2242150
PubMed Link: 24066097
Variant Present in the following documents:
  • Main text
  • pone.0074063.pdf
View BVdb publication page



Replicated associations of TNFAIP3, TNIP1 and ETS1 with systemic lupus erythematosus in a southwestern Chinese population.

Arthritis Research & Therapy
Zhong, Hua H; Li, Xiao-lan XL; Li, Ming M; Hao, Li-xia LX; Chen, Rong-wei RW; Xiang, Kun K; Qi, Xue-bin XB; Ma, Runlin Z RZ; Su, Bing B
Publication Date: 2011

Variant appearance in text: rs2242150
PubMed Link: 22087647
Variant Present in the following documents:
  • Main text
  • ar3514.pdf
View BVdb publication page



Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.

Genes And Immunity
Namjou, B B; Kothari, P H PH; Kelly, J A JA; Glenn, S B SB; Ojwang, J O JO; Adler, A A; Alarcón-Riquelme, M E ME; Gallant, C J CJ; Boackle, S A SA; Criswell, L A LA; Kimberly, R P RP; Brown, E E; Edberg, J J; Stevens, A M AM; Jacob, C O CO; Tsao, B P BP; Gilkeson, G S GS; Kamen, D L DL; Merrill, J T JT; Petri, M M; Goldman, R R RR; Vila, L M LM; Anaya, J-M JM; Niewold, T B TB; Martin, J J; Pons-Estel, B A BA; Sabio, J M JM; Callejas, J L JL; Vyse, T J TJ; Bae, S-C SC; Perrino, F W FW; Freedman, B I BI; Scofield, R H RH; Moser, K L KL; Gaffney, P M PM; James, J A JA; Langefeld, C D CD; Kaufman, K M KM; Harley, J B JB; Atkinson, J P JP
Publication Date: 2011-06

Variant appearance in text: rs2242150
PubMed Link: 21270825
Variant Present in the following documents:
  • Main text
View BVdb publication page