RNF114 c.*251G>A

Variant ID: 20-48568929-G-A

NM_018683.3(RNF114):c.*251G>A

This variant was identified in 13 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: rs6125829
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs6125829
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs6125829
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.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: rs6125829
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs6125829
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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: rs6125829
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



The association between 38 previously reported polymorphisms and psoriasis in a Polish population: High predicative accuracy of a genetic risk score combining 16 loci.

Plos One
Kisiel, Bartłomiej B; Kisiel, Katarzyna K; Szymański, Konrad K; Mackiewicz, Wojciech W; Biało-Wójcicka, Ewelina E; Uczniak, Sebastian S; Fogtman, Anna A; Iwanicka-Nowicka, Roksana R; Koblowska, Marta M; Kossowska, Helena H; Placha, Grzegorz G; Sykulski, Maciej M; Bachta, Artur A; Tłustochowicz, Witold W; Płoski, Rafał R; Kaszuba, Andrzej A
Publication Date: 2017

Variant appearance in text: rs6125829
PubMed Link: 28617847
Variant Present in the following documents:
  • Main text
  • pone.0179348.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs6125829
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Candidate gene polymorphisms and risk of psoriasis: A pilot study.

Experimental And Therapeutic Medicine
Villarreal-Martínez, Alejandra A; Gallardo-Blanco, Hugo H; Cerda-Flores, Ricardo R; Torres-Muñoz, Iris I; Gómez-Flores, Minerva M; Salas-Alanís, Julio J; Ocampo-Candiani, Jorge J; Martínez-Garza, Laura L
Publication Date: 2016-04

Variant appearance in text: rs6125829
PubMed Link: 27073425
Variant Present in the following documents:
  • Main text
  • etm-11-04-1217.pdf
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs6125829
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.

Human Mutation
Sabarinathan, Radhakrishnan R; Tafer, Hakim H; Seemann, Stefan E SE; Hofacker, Ivo L IL; Stadler, Peter F PF; Gorodkin, Jan J
Publication Date: 2013-04

Variant appearance in text: rs6125829
PubMed Link: 23315997
Variant Present in the following documents:
  • humu0034-0546-SD1.pdf
View BVdb publication page



A genetic risk score combining ten psoriasis risk loci improves disease prediction.

Plos One
Chen, Haoyan H; Poon, Annie A; Yeung, Celestine C; Helms, Cynthia C; Pons, Jennifer J; Bowcock, Anne M AM; Kwok, Pui-Yan PY; Liao, Wilson W
Publication Date: 2011-04-29

Variant appearance in text: rs6125829
PubMed Link: 21559375
Variant Present in the following documents:
  • Main text
  • pone.0019454.pdf
View BVdb publication page



Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.

Human Molecular Genetics
Capon, Francesca F; Bijlmakers, Marie-José MJ; Wolf, Natalie N; Quaranta, Maria M; Huffmeier, Ulrike U; Allen, Michael M; Timms, Kirsten K; Abkevich, Victor V; Gutin, Alexander A; Smith, Rhodri R; Warren, Richard B RB; Young, Helen S HS; Worthington, Jane J; Burden, A David AD; Griffiths, Christopher E M CE; Hayday, Adrian A; Nestle, Frank O FO; Reis, Andre A; Lanchbury, Jerry J; Barker, Jonathan N JN; Trembath, Richard C RC
Publication Date: 2008-07-01

Variant appearance in text: rs6125829
PubMed Link: 18364390
Variant Present in the following documents:
  • Main text
View BVdb publication page