CDKN1B c.482C>G ;(p.S161C)

Variant ID: 12-12871765-C-G

NM_004064.3(CDKN1B):c.482C>G;(p.S161C)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Multiple endocrine neoplasia type 4: a new member of the MEN family.

Endocrine Connections
Singeisen, Hélène H; Renzulli, Mariko Melanie MM; Pavlicek, Vojtech V; Probst, Pascal P; Hauswirth, Fabian F; Muller, Markus K MK; Adamczyk, Magdalene M; Weber, Achim A; Kaderli, Reto Martin RM; Renzulli, Pietro P
Publication Date: 2022-12-01

Variant appearance in text: CDKN1B: 482C>G; S161C
PubMed Link: 36520683
Variant Present in the following documents:
  • Main text
  • EC-22-0411.pdf
View BVdb publication page



Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.

Journal Of Endocrinological Investigation
Mazarico-Altisent, I I; Capel, I I; Baena, N N; Bella-Cueto, M R MR; Barcons, S S; Guirao, X X; Albert, L L; Cano, A A; Pareja, R R; Caixàs, A A; Rigla, M M
Publication Date: 2022-11-05

Variant appearance in text: CDKN1B: 482C>G; Ser161Cys
PubMed Link: 36334246
Variant Present in the following documents:
  • 40618_2022_1948_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management.

Frontiers In Endocrinology
Lavezzi, Elisabetta E; Brunetti, Alessandro A; Smiroldo, Valeria V; Nappo, Gennaro G; Pedicini, Vittorio V; Vitali, Eleonora E; Trivellin, Giampaolo G; Mazziotti, Gherardo G; Lania, Andrea A
Publication Date: 2022

Variant appearance in text: CDKN1B: 482C>G; rs373917399
PubMed Link: 35355569
Variant Present in the following documents:
  • Main text
  • fendo-13-773143.pdf
View BVdb publication page



Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15

Variant appearance in text: CDKN1B: Ser161Cys; rs373917399
PubMed Link: 35218560
Variant Present in the following documents:
  • IJC-151-240-s001.xlsx, sheet 7
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: CDKN1B: S161C
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Applications of Circulating Tumor DNA in a Cohort of Phase I Solid Tumor Patients Treated With Immunotherapy.

Jnci Cancer Spectrum
Araujo, Daniel V DV; Wang, Ao A; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; McCarthy, Aoife A; Berman, Hal H; Spreafico, Anna A; Hansen, Aaron R AR; Razak, Albiruni-Abdul AA; Bedard, Philippe L PL; Wang, Lisa L; Plackmann, Eric E; Chow, Helen H; Bao, Hua H; Wu, Xue X; Pugh, Trevor J TJ; Siu, Lillian L LL
Publication Date: 2021-06

Variant appearance in text: CDKN1B: S161C
PubMed Link: 34056539
Variant Present in the following documents:
  • pkaa122.pdf
View BVdb publication page



Applications of Circulating Tumor DNA in a Cohort of Phase I Solid Tumor Patients Treated With Immunotherapy.

Jnci Cancer Spectrum
Araujo, Daniel V DV; Wang, Ao A; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; McCarthy, Aoife A; Berman, Hal H; Spreafico, Anna A; Hansen, Aaron R AR; Razak, Albiruni-Abdul AA; Bedard, Philippe L PL; Wang, Lisa L; Plackmann, Eric E; Chow, Helen H; Bao, Hua H; Wu, Xue X; Pugh, Trevor J TJ; Siu, Lillian L LL
Publication Date: 2021-06

Variant appearance in text: CDKN1B: S161C
PubMed Link: 34056539
Variant Present in the following documents:
  • pkaa122.pdf
View BVdb publication page



Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18

Variant appearance in text: rs373917399
PubMed Link: 32682410
Variant Present in the following documents:
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CDKN1B: S161C
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs373917399
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: CDKN1B: 482C>G; Ser161Cys
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: CDKN1B: Ser161Cys; rs373917399
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CDKN1B: 482C>G; S161C
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page