Publications:

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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: NRAS: 101C>T; Pro34Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Journal For Immunotherapy Of Cancer

Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L

Publication Date: 2023-01

Variant appearance in text: NRAS: 101C>T; Pro34Leu

PubMed Link: 36593066

Variant Present in the following documents:

• jitc-2022-005937supp007.xls, sheet 1

View BVdb publication page

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High efficacy of azacitidine combined with homoharringtonine, idarubicin, and cytarabine in newly diagnosed patients with AML: A single arm, phase 2 trial.

Frontiers In Oncology

Li, Jun J; Huang, Yanqing Y; Hou, Yue Y; Gu, Yan Y; Song, Chunhua C; Ge, Zheng Z

Publication Date: 2022

Variant appearance in text: NRAS: 101C>T

PubMed Link: 36568250

Variant Present in the following documents:

• Main text
• fonc-12-1069246.pdf

View BVdb publication page

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Identification of NRAS Diagnostic Biomarkers and Drug Targets for Endometrial Cancer-An Integrated in Silico Approach.

International Journal Of Molecular Sciences

Alessandro, Larsen L; Low, Kat-Jun Eric KE; Abushelaibi, Aisha A; Lim, Swee-Hua Erin SE; Cheng, Wan-Hee WH; Chang, Sook-Keng SK; Lai, Kok-Song KS; Sum, Yap Wai YW; Maran, Sathiya S

Publication Date: 2022-11-18

Variant appearance in text: NRAS: P34L; rs397514553

PubMed Link: 36430761

Variant Present in the following documents:

• Main text
• ijms-23-14285.pdf

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: NRAS: P34L

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology

Georgoulias, George G; Zaravinos, Apostolos A

Publication Date: 2022

Variant appearance in text: NRAS: P34L

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 9

View BVdb publication page

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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Nature Communications

Fasano, Giulia G; Muto, Valentina V; Radio, Francesca Clementina FC; Venditti, Martina M; Mosaddeghzadeh, Niloufar N; Coppola, Simona S; Paradisi, Graziamaria G; Zara, Erika E; Bazgir, Farhad F; Ziegler, Alban A; Chillemi, Giovanni G; Bertuccini, Lucia L; Tinari, Antonella A; Vetro, Annalisa A; Pantaleoni, Francesca F; Pizzi, Simone S; Conti, Libenzio Adrian LA; Petrini, Stefania S; Bruselles, Alessandro A; Prandi, Ingrid Guarnetti IG; Mancini, Cecilia C; Chandramouli, Balasubramanian B; Barth, Magalie M; Bris, Céline C; Milani, Donatella D; Selicorni, Angelo A; Macchiaiolo, Marina M; Gonfiantini, Michaela V MV; Bartuli, Andrea A; Mariani, Riccardo R; Curry, Cynthia J CJ; Guerrini, Renzo R; Slavotinek, Anne A; Iascone, Maria M; Dallapiccola, Bruno B; Ahmadian, Mohammad Reza MR; Lauri, Antonella A; Tartaglia, Marco M

Publication Date: 2022-11-11

Variant appearance in text: NRAS: Pro34Leu

PubMed Link: 36369169

Variant Present in the following documents:

• 41467_2022_34354_MOESM1_ESM.pdf

View BVdb publication page

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: NRAS: P34L

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s006.xlsx, sheet 2

View BVdb publication page

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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: NRAS: 101C>T; P34L

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: NRAS: P34L

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: NRAS: P34L

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: NRAS: 101C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Dunnett-Kane, V V; Burkitt-Wright, E E; Blackhall, F H FH; Malliri, A A; Evans, D G DG; Lindsay, C R CR

Publication Date: 2020-07

Variant appearance in text: NRAS: P34L

PubMed Link: 32240795

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: NRAS: Pro34Leu

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: NRAS: P34L

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2
• pone.0196434.s001.xlsx, sheet 1

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: NRAS: P34L; rs397514553

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

View BVdb publication page

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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: NRAS: 101C>T; P34L

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: NRAS: 101C>T; Pro34Leu

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 4

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LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer.

Bmc Bioinformatics

Melloni, Giorgio E M GE; de Pretis, Stefano S; Riva, Laura L; Pelizzola, Mattia M; Céol, Arnaud A; Costanza, Jole J; Müller, Heiko H; Zammataro, Luca L

Publication Date: 2016-02-09

Variant appearance in text: NRAS: P34L; rs397514553

PubMed Link: 26860319

Variant Present in the following documents:

• 12859_2016_935_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: NRAS: 101C>T; P34L

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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RASopathies: unraveling mechanisms with animal models.

Disease Models & Mechanisms

Jindal, Granton A GA; Goyal, Yogesh Y; Burdine, Rebecca D RD; Rauen, Katherine A KA; Shvartsman, Stanislav Y SY

Publication Date: 2015-08-01

Variant appearance in text: NRAS: P34L

PubMed Link: 26203125

Variant Present in the following documents:

• supp_8.8.769_DMM020339supp.pdf

View BVdb publication page

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ERBB activation modulates sensitivity to MEK1/2 inhibition in a subset of driver-negative melanoma.

Oncotarget

Hutchinson, Katherine E KE; Johnson, Douglas B DB; Johnson, Adam S AS; Sanchez, Violeta V; Kuba, Maria M; Lu, Pengcheng P; Chen, Xi X; Kelley, Mark C MC; Wang, Qingguo Q; Zhao, Zhongming Z; Kris, Mark M; Berger, Michael F MF; Sosman, Jeffrey A JA; Pao, William W

Publication Date: 2015-09-08

Variant appearance in text: NRAS: P34L

PubMed Link: 26084293

Variant Present in the following documents:

• oncotarget-06-22348-s003.xlsx, sheet 1

View BVdb publication page

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Mosaic RASopathies.

Cell Cycle (Georgetown, Tex.)

Hafner, Christian C; Groesser, Leopold L

Publication Date: 2013-01-01

Variant appearance in text: NRAS: P34L

PubMed Link: 23255105

Variant Present in the following documents:

• Main text

View BVdb publication page

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NRAS Mutations in Noonan Syndrome.

Molecular Syndromology

Denayer, E E; Peeters, H H; Sevenants, L L; Derbent, M M; Fryns, J P JP; Legius, E E

Publication Date: 2012-06

Variant appearance in text: NRAS: 101C>T; Pro34Leu

PubMed Link: 22855653

Variant Present in the following documents:

• Main text

View BVdb publication page

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