INTS11 c.882C>T ;(p.F294=)

Variant ID: 1-1249187-G-A

NM_017871.5(INTS11):c.882C>T;(p.F294=)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


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: rs12142199
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs12142199
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
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: rs12142199
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.

Plos One
Rauf, Sobiah S; Austin, Jeremy J JJ; Higgins, Denice D; Khan, Muhammad Ramzan MR
Publication Date: 2022

Variant appearance in text: rs12142199
PubMed Link: 35176104
Variant Present in the following documents:
  • Main text
  • pone.0264125.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: rs12142199
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: rs12142199
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool.

Genes
de la Puente, María M; Ruiz-Ramírez, Jorge J; Ambroa-Conde, Adrián A; Xavier, Catarina C; Pardo-Seco, Jacobo J; Álvarez-Dios, Jose J; Freire-Aradas, Ana A; Mosquera-Miguel, Ana A; Gross, Theresa E TE; Cheung, Elaine Y Y EYY; Branicki, Wojciech W; Nothnagel, Michael M; Parson, Walther W; Schneider, Peter M PM; Kayser, Manfred M; Carracedo, Ángel Á; Lareu, Maria Victoria MV; Phillips, Christopher C; On Behalf Of The Visage Consortium,
Publication Date: 2021-08-22

Variant appearance in text: rs12142199
PubMed Link: 34440458
Variant Present in the following documents:
  • Main text
  • genes-12-01284.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs12142199
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_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: CPSF3L: F294F; rs12142199
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: CPSF3L: 882C>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs12142199
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.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: CPSF3L: F294F; rs12142199
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



Transancestral mapping and genetic load in systemic lupus erythematosus.

Nature Communications
Langefeld, Carl D CD; Ainsworth, Hannah C HC; Cunninghame Graham, Deborah S DS; Kelly, Jennifer A JA; Comeau, Mary E ME; Marion, Miranda C MC; Howard, Timothy D TD; Ramos, Paula S PS; Croker, Jennifer A JA; Morris, David L DL; Sandling, Johanna K JK; Almlöf, Jonas Carlsson JC; Acevedo-Vásquez, Eduardo M EM; Alarcón, Graciela S GS; Babini, Alejandra M AM; Baca, Vicente V; Bengtsson, Anders A AA; Berbotto, Guillermo A GA; Bijl, Marc M; Brown, Elizabeth E EE; Brunner, Hermine I HI; Cardiel, Mario H MH; Catoggio, Luis L; Cervera, Ricard R; Cucho-Venegas, Jorge M JM; Dahlqvist, Solbritt Rantapää SR; D'Alfonso, Sandra S; Da Silva, Berta Martins BM; de la Rúa Figueroa, Iñigo I; Doria, Andrea A; Edberg, Jeffrey C JC; Endreffy, Emőke E; Esquivel-Valerio, Jorge A JA; Fortin, Paul R PR; Freedman, Barry I BI; Frostegård, Johan J; García, Mercedes A MA; de la Torre, Ignacio García IG; Gilkeson, Gary S GS; Gladman, Dafna D DD; Gunnarsson, Iva I; Guthridge, Joel M JM; Huggins, Jennifer L JL; James, Judith A JA; Kallenberg, Cees G M CGM; Kamen, Diane L DL; Karp, David R DR; Kaufman, Kenneth M KM; Kottyan, Leah C LC; Kovács, László L; Laustrup, Helle H; Lauwerys, Bernard R BR; Li, Quan-Zhen QZ; Maradiaga-Ceceña, Marco A MA; Martín, Javier J; McCune, Joseph M JM; McWilliams, David R DR; Merrill, Joan T JT; Miranda, Pedro P; Moctezuma, José F JF; Nath, Swapan K SK; Niewold, Timothy B TB; Orozco, Lorena L; Ortego-Centeno, Norberto N; Petri, Michelle M; Pineau, Christian A CA; Pons-Estel, Bernardo A BA; Pope, Janet J; Raj, Prithvi P; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Russell, Laurie P LP; Sabio, José M JM; Aguilar-Salinas, Carlos A CA; Scherbarth, Hugo R HR; Scorza, Raffaella R; Seldin, Michael F MF; Sjöwall, Christopher C; Svenungsson, Elisabet E; Thompson, Susan D SD; Toloza, Sergio M A SMA; Truedsson, Lennart L; Tusié-Luna, Teresa T; Vasconcelos, Carlos C; Vilá, Luis M LM; Wallace, Daniel J DJ; Weisman, Michael H MH; Wither, Joan E JE; Bhangale, Tushar T; Oksenberg, Jorge R JR; Rioux, John D JD; Gregersen, Peter K PK; Syvänen, Ann-Christine AC; Rönnblom, Lars L; Criswell, Lindsey A LA; Jacob, Chaim O CO; Sivils, Kathy L KL; Tsao, Betty P BP; Schanberg, Laura E LE; Behrens, Timothy W TW; Silverman, Earl D ED; Alarcón-Riquelme, Marta E ME; Kimberly, Robert P RP; Harley, John B JB; Wakeland, Edward K EK; Graham, Robert R RR; Gaffney, Patrick M PM; Vyse, Timothy J TJ
Publication Date: 2017-07-17

Variant appearance in text: rs12142199
PubMed Link: 28714469
Variant Present in the following documents:
  • Main text
  • ncomms16021.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: CPSF3L: F294F; rs12142199
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.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: CPSF3L: F294F; rs12142199
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CPSF3L: F294F; rs12142199
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page