CDK4 c.71G>A ;(p.R24H)

Variant ID: 12-58145430-C-T

NM_000075.3(CDK4):c.71G>A;(p.R24H)

This variant was identified in 71 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CDK4: 71G>A; Arg24His
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: CDK4: R24H
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)
Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q
Publication Date: 2022-10

Variant appearance in text: CDK4: R24H
PubMed Link: 35926241
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine
Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z
Publication Date: 2022-11

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 35586877
Variant Present in the following documents:
  • CAM4-11-4070-s004.xlsx, sheet 1
View BVdb publication page



Designing highly multiplex PCR primer sets with Simulated Annealing Design using Dimer Likelihood Estimation (SADDLE).

Nature Communications
Xie, Nina G NG; Wang, Michael X MX; Song, Ping P; Mao, Shiqi S; Wang, Yifan Y; Yang, Yuxia Y; Luo, Junfeng J; Ren, Shengxiang S; Zhang, David Yu DY
Publication Date: 2022-04-11

Variant appearance in text: CDK4: 71G>A
PubMed Link: 35410464
Variant Present in the following documents:
  • 41467_2022_29500_MOESM5_ESM.xlsx, sheet 8
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: CDK4: R24H
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
View BVdb publication page



Mapping oncogenic protein interactions for precision medicine.

International Journal Of Cancer
Sharifi Tabar, Mehdi M; Francis, Habib H; Yeo, Dannel D; Bailey, Charles G CG; Rasko, John E J JEJ
Publication Date: 2022-07-01

Variant appearance in text: CDK4: R24H
PubMed Link: 35113472
Variant Present in the following documents:
  • Main text
  • IJC-151-7.pdf
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: CDK4: R24H
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: CDK4: R24H
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Melanoma susceptibility: an update on genetic and epigenetic findings.

International Journal Of Molecular Epidemiology And Genetics
Truderung, Ole Ah OA; Sagi, Judit C JC; Semsei, Agnes F AF; Szalai, Csaba C
Publication Date: 2021

Variant appearance in text: CDK4: Arg24His
PubMed Link: 34853632
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.

Journal Of Clinical Medicine
Zocchi, Lamberto L; Lontano, Alberto A; Merli, Martina M; Dika, Emi E; Nagore, Eduardo E; Quaglino, Pietro P; Puig, Susana S; Ribero, Simone S
Publication Date: 2021-08-23

Variant appearance in text: CDK4: Arg24His
PubMed Link: 34442055
Variant Present in the following documents:
  • Main text
  • jcm-10-03760.pdf
View BVdb publication page



Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies.

Frontiers In Oncology
Scatena, Cristian C; Murtas, Daniela D; Tomei, Sara S
Publication Date: 2021

Variant appearance in text: CDK4: R24H
PubMed Link: 34123788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Genome Medicine
Tsui, Dana W Y DWY; Cheng, Michael L ML; Shady, Maha M; Yang, Julie L JL; Stephens, Dennis D; Won, Helen H; Srinivasan, Preethi P; Huberman, Kety K; Meng, Fanli F; Jing, Xiaohong X; Patel, Juber J; Hasan, Maysun M; Johnson, Ian I; Gedvilaite, Erika E; Houck-Loomis, Brian B; Socci, Nicholas D ND; Selcuklu, S Duygu SD; Seshan, Venkatraman E VE; Zhang, Hongxin H; Chakravarty, Debyani D; Zehir, Ahmet A; Benayed, Ryma R; Arcila, Maria M; Ladanyi, Marc M; Funt, Samuel A SA; Feldman, Darren R DR; Li, Bob T BT; Razavi, Pedram P; Rosenberg, Jonathan J; Bajorin, Dean D; Iyer, Gopa G; Abida, Wassim W; Scher, Howard I HI; Rathkopf, Dana D; Viale, Agnes A; Berger, Michael F MF; Solit, David B DB
Publication Date: 2021-05-31

Variant appearance in text: CDK4: R24H
PubMed Link: 34059130
Variant Present in the following documents:
  • 13073_2021_898_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



3'UTR-CDKN2A and CDK4 Germline Variants Are Associated With Susceptibility to Cutaneous Melanoma.

In Vivo (Athens, Greece)
Tovar-Parra, David D; Gil-Quiñones, Sebastián Ramiro SR; Nova, John J; Gutiérrez-Castañeda, Luz D LD
Publication Date: 2021

Variant appearance in text: CDK4: R24H; rs104894340
PubMed Link: 33910831
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: CDK4: 71G>A; R24H; rs104894340
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

International Journal Of Molecular Sciences
De Simone, Paola P; Bottillo, Irene I; Valiante, Michele M; Iorio, Alessandra A; De Bernardo, Carmelilia C; Majore, Silvia S; D'Angelantonio, Daniela D; Valentini, Tiziana T; Sperduti, Isabella I; Piemonte, Paolo P; Eibenschutz, Laura L; Ferrari, Angela A; Carbone, Anna A; Buccini, Pierluigi P; Paiardini, Alessandro A; Silipo, Vitaliano V; Frascione, Pasquale P; Grammatico, Paola P
Publication Date: 2020-12-11

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 33322357
Variant Present in the following documents:
  • Main text
  • ijms-21-09432.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs104894340
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: CDK4: 71G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Scientific Reports
Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P
Publication Date: 2019-11-19

Variant appearance in text: CDK4: Arg24His; rs104894340
PubMed Link: 31745173
Variant Present in the following documents:
  • Main text
  • 41598_2019_53636_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_Article_53636.pdf
View BVdb publication page



Analysis of error profiles in deep next-generation sequencing data.

Genome Biology
Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J
Publication Date: 2019-03-14

Variant appearance in text: CDK4: R24H
PubMed Link: 30867008
Variant Present in the following documents:
  • 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



The interplay of CDK4 and CDK6 in melanoma.

Oncotarget
Kollmann, Karoline K; Briand, Coralie C; Bellutti, Florian F; Schicher, Nikolaus N; Blunder, Stefan S; Zojer, Markus M; Hoeller, Christoph C
Publication Date: 2019-02-15

Variant appearance in text: CDK4: R24H
PubMed Link: 30858922
Variant Present in the following documents:
  • Main text
  • oncotarget-10-1346.pdf
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
  • 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer
Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,
Publication Date: 2019-05-15

Variant appearance in text: CDK4: R24H
PubMed Link: 30414346
Variant Present in the following documents:
  • Main text
  • IJC-144-2453.pdf
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: CDK4: R24H
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



Epidemiological and genetic factors underlying melanoma development in Italy.

Melanoma Management
Palmieri, Giuseppe G; Colombino, Maria M; Casula, Milena M; Budroni, Mario M; Manca, Antonella A; Sini, Maria Cristina MC; Lissia, Amelia A; Stanganelli, Ignazio I; Ascierto, Paolo A PA; Cossu, Antonio A
Publication Date: 2015-05

Variant appearance in text: CDK4: R24H
PubMed Link: 30190844
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Publication Date: 2018-07-27

Variant appearance in text: CDK4: R24H
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 13
View BVdb publication page



Patterns of genomic evolution in advanced melanoma.

Nature Communications
Birkeland, E E; Zhang, S S; Poduval, D D; Geisler, J J; Nakken, S S; Vodak, D D; Meza-Zepeda, L A LA; Hovig, E E; Myklebost, O O; Knappskog, S S; Lønning, P E PE
Publication Date: 2018-07-10

Variant appearance in text: CDK4: R24H
PubMed Link: 29991680
Variant Present in the following documents:
  • 41467_2018_5063_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.

Acta Dermato-Venereologica
Karagianni, Fani F; Njauw, Ching-Ni CN; Kypreou, Katerina P KP; Stergiopoulou, Aravela A; Plaka, Michaela M; Polydorou, Dorothea D; Chasapi, Vasiliki V; Pappas, Leontios L; Stratigos, Ioannis A IA; Champsas, Gregory G; Panagiotou, Peter P; Gogas, Helen H; Evangelou, Evangelos E; Tsao, Hensin H; Stratigos, Alexander J AJ; Stefanaki, Irene I
Publication Date: 2018-10-10

Variant appearance in text: CDK4: 71G>A; Arg24His
PubMed Link: 29774366
Variant Present in the following documents:
  • Main text
  • nihms-1016697.pdf
View BVdb publication page



Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients.

Oncotargets And Therapy
Chen, Qiong Q; Li, Rong R; Zhang, Zhi-Gao ZG; Deng, Qiao-Ting QT; Li, Kun K; Wang, Hao H; Yang, Xue-Xi XX; Wu, Ying-Song YS
Publication Date: 2018

Variant appearance in text: CDK4: R24H
PubMed Link: 29719410
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes.

Oncogenesis
Gress, A A; Ramensky, V V; Kalinina, O V OV
Publication Date: 2017-09-25

Variant appearance in text: CDK4: Arg24His
PubMed Link: 28945216
Variant Present in the following documents:
  • Main text
  • oncsis201779a.pdf
View BVdb publication page



Focus on cutaneous and uveal melanoma specificities.

Genes & Development
Pandiani, Charlotte C; Béranger, Guillaume E GE; Leclerc, Justine J; Ballotti, Robert R; Bertolotto, Corine C
Publication Date: 2017-04-15

Variant appearance in text: CDK4: R24H
PubMed Link: 28512236
Variant Present in the following documents:
  • Main text
  • 724.pdf
View BVdb publication page



Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

Scientific Reports
de Unamuno Bustos, Blanca B; Murria Estal, Rosa R; Pérez Simó, Gema G; de Juan Jimenez, Inmaculada I; Escutia Muñoz, Begoña B; Rodríguez Serna, Mercedes M; Alegre de Miquel, Victor V; Llavador Ros, Margarita M; Ballester Sánchez, Rosa R; Nagore Enguídanos, Eduardo E; Palanca Suela, Sarai S; Botella Estrada, Rafael R
Publication Date: 2017-03-29

Variant appearance in text: CDK4: R24H
PubMed Link: 28356599
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_606.pdf
  • 41598_2017_606_MOESM2_ESM.xls, sheet 1
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
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PRMT5 competitively binds to CDK4 to promote G1-S transition upon glucose induction in hepatocellular carcinoma.

Oncotarget
Yang, Hao H; Zhao, Xiaoping X; Zhao, Li L; Liu, Liu L; Li, Jiajin J; Jia, Wenzhi W; Liu, Jianjun J; Huang, Gang G
Publication Date: 2016-11-01

Variant appearance in text: CDK4: R24H
PubMed Link: 27708221
Variant Present in the following documents:
  • Main text
  • oncotarget-07-72131.pdf
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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: CDK4: 71G>A; R24H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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Islet biology, the CDKN2A/B locus and type 2 diabetes risk.

Diabetologia
Kong, Yahui Y; Sharma, Rohit B RB; Nwosu, Benjamin U BU; Alonso, Laura C LC
Publication Date: 2016-08

Variant appearance in text: CDK4: R24H
PubMed Link: 27155872
Variant Present in the following documents:
  • Main text
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Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.

Oncotarget
Ibarrola-Villava, Maider M; Fleitas, Tania T; Llorca-Cardeñosa, Marta J MJ; Mongort, Cristina C; Alonso, Elisa E; Navarro, Samuel S; Burgues, Octavio O; Vivancos, Ana A; Cejalvo, Juan Miguel JM; Perez-Fidalgo, José Alejandro JA; Roselló, Susana S; Ribas, Gloria G; Cervantes, Andrés A
Publication Date: 2016-04-19

Variant appearance in text: CDK4: R24H
PubMed Link: 26968814
Variant Present in the following documents:
  • Main text
  • oncotarget-07-22543.pdf
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Targeting human melanoma neoantigens by T cell receptor gene therapy.

The Journal Of Clinical Investigation
Leisegang, Matthias M; Kammertoens, Thomas T; Uckert, Wolfgang W; Blankenstein, Thomas T
Publication Date: 2016-03-01

Variant appearance in text: CDK4: R24H
PubMed Link: 26808500
Variant Present in the following documents:
  • Main text
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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: CDK4: 71G>A; R24H
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
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Analysing the Effect of Mutation on Protein Function and Discovering Potential Inhibitors of CDK4: Molecular Modelling and Dynamics Studies.

Plos One
N, Nagasundaram N; Zhu, Hailong H; Liu, Jiming J; V, Karthick K; C, George Priya Doss GP; Chakraborty, Chiranjib C; Chen, Luonan L
Publication Date: 2015

Variant appearance in text: CDK4: R24H; rs104894340
PubMed Link: 26252490
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CDK4: R24H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



A repository of assays to quantify 10,000 human proteins by SWATH-MS.

Scientific Data
Rosenberger, George G; Koh, Ching Chiek CC; Guo, Tiannan T; Röst, Hannes L HL; Kouvonen, Petri P; Collins, Ben C BC; Heusel, Moritz M; Liu, Yansheng Y; Caron, Etienne E; Vichalkovski, Anton A; Faini, Marco M; Schubert, Olga T OT; Faridi, Pouya P; Ebhardt, H Alexander HA; Matondo, Mariette M; Lam, Henry H; Bader, Samuel L SL; Campbell, David S DS; Deutsch, Eric W EW; Moritz, Robert L RL; Tate, Stephen S; Aebersold, Ruedi R
Publication Date: 2014

Variant appearance in text: CDK4: R24H
PubMed Link: 25977788
Variant Present in the following documents:
  • Main text
  • sdata201431.pdf
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Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Plos One
Wadt, Karin A W KA; Aoude, Lauren G LG; Krogh, Lotte L; Sunde, Lone L; Bojesen, Anders A; Grønskov, Karen K; Wartacz, Nine N; Ek, Jakob J; Tolstrup-Andersen, Morten M; Klarskov-Andersen, Mette M; Borg, Åke Å; Heegaard, Steffen S; Kiilgaard, Jens F JF; Hansen, Thomas V O TV; Klein, Kerenaftali K; Jönsson, Göran G; Drzewiecki, Krzysztof T KT; Dunø, Morten M; Hayward, Nicholas K NK; Gerdes, Anne-Marie AM
Publication Date: 2015

Variant appearance in text: CDK4: R24H
PubMed Link: 25803691
Variant Present in the following documents:
  • Main text
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A proteome-scale map of the human interactome network.

Cell
Rolland, Thomas T; Taşan, Murat M; Charloteaux, Benoit B; Pevzner, Samuel J SJ; Zhong, Quan Q; Sahni, Nidhi N; Yi, Song S; Lemmens, Irma I; Fontanillo, Celia C; Mosca, Roberto R; Kamburov, Atanas A; Ghiassian, Susan D SD; Yang, Xinping X; Ghamsari, Lila L; Balcha, Dawit D; Begg, Bridget E BE; Braun, Pascal P; Brehme, Marc M; Broly, Martin P MP; Carvunis, Anne-Ruxandra AR; Convery-Zupan, Dan D; Corominas, Roser R; Coulombe-Huntington, Jasmin J; Dann, Elizabeth E; Dreze, Matija M; Dricot, Amélie A; Fan, Changyu C; Franzosa, Eric E; Gebreab, Fana F; Gutierrez, Bryan J BJ; Hardy, Madeleine F MF; Jin, Mike M; Kang, Shuli S; Kiros, Ruth R; Lin, Guan Ning GN; Luck, Katja K; MacWilliams, Andrew A; Menche, Jörg J; Murray, Ryan R RR; Palagi, Alexandre A; Poulin, Matthew M MM; Rambout, Xavier X; Rasla, John J; Reichert, Patrick P; Romero, Viviana V; Ruyssinck, Elien E; Sahalie, Julie M JM; Scholz, Annemarie A; Shah, Akash A AA; Sharma, Amitabh A; Shen, Yun Y; Spirohn, Kerstin K; Tam, Stanley S; Tejeda, Alexander O AO; Trigg, Shelly A SA; Twizere, Jean-Claude JC; Vega, Kerwin K; Walsh, Jennifer J; Cusick, Michael E ME; Xia, Yu Y; Barabási, Albert-László AL; Iakoucheva, Lilia M LM; Aloy, Patrick P; De Las Rivas, Javier J; Tavernier, Jan J; Calderwood, Michael A MA; Hill, David E DE; Hao, Tong T; Roth, Frederick P FP; Vidal, Marc M
Publication Date: 2014-11-20

Variant appearance in text: CDK4: R24H
PubMed Link: 25416956
Variant Present in the following documents:
  • Main text
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Absence of 19 known hotspot oncogenic mutations in soft tissue clear cell sarcoma: two cases report with review of the literature.

International Journal Of Clinical And Experimental Pathology
Liu, Chunxia C; Ren, Yan Y; Li, Xiaoying X; Cao, Yuwen Y; Chen, Yunzhao Y; Cui, Xiaobin X; Li, Li L; Li, Feng F
Publication Date: 2014

Variant appearance in text: CDK4: R24H
PubMed Link: 25197404
Variant Present in the following documents:
  • Main text
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Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

The Journal Of Molecular Diagnostics : Jmd
MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI
Publication Date: 2014-11

Variant appearance in text: CDK4: R24H
PubMed Link: 25157968
Variant Present in the following documents:
  • Main text
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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: CDK4: 71G>A; R24H; rs104894340
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Oncogene mutational profile in nasopharyngeal carcinoma.

Oncotargets And Therapy
Zhang, Zi-Chen ZC; Fu, Sha S; Wang, Fang F; Wang, Hai-Yun HY; Zeng, Yi-Xin YX; Shao, Jian-Yong JY
Publication Date: 2014

Variant appearance in text: CDK4: R24H
PubMed Link: 24672248
Variant Present in the following documents:
  • Main text
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Transcriptomic changes induced by mycophenolic acid in gastric cancer cells.

American Journal Of Translational Research
Dun, Boying B; Sharma, Ashok A; Xu, Heng H; Liu, Haitao H; Bai, Shan S; Zeng, Lingwen L; She, Jin-Xiong JX
Publication Date: 2013

Variant appearance in text: CDK4: R24h
PubMed Link: 24349619
Variant Present in the following documents:
  • Main text
View BVdb publication page