Publications:

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: 225: 515C>T

PubMed Link: 37324772

Variant Present in the following documents:

• JOA3-39-430.pdf

View BVdb publication page

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: 225: 515C>T

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: 225: 515C>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Mapping of SARS-CoV-2 spike protein evolution during first and second waves of COVID-19 infections in India.

Future Virology

Rajpal, Vijay Rani VR; Sharma, Shashi S; Kumar, Avinash A; Vaishnavi, Samantha S; Singh, Apekshita A; Sehgal, Deepmala D; Tiwari, Mughdha M; Goel, Shailendra S; Raina, Soom Nath SN

Publication Date: 2022-05

Variant appearance in text: 225: S172F

PubMed Link: 35747327

Variant Present in the following documents:

• fvl-2021-0267.pdf

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: EGR1: 515C>T; Ser172Phe

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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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: 225: S172F

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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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: 225: S172F

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Mycobacterium leprae diversity and population dynamics in medieval Europe from novel ancient genomes.

Bmc Biology

Pfrengle, Saskia S; Neukamm, Judith J; Guellil, Meriam M; Keller, Marcel M; Molak, Martyna M; Avanzi, Charlotte C; Kushniarevich, Alena A; Montes, Núria N; Neumann, Gunnar U GU; Reiter, Ella E; Tukhbatova, Rezeda I RI; Berezina, Nataliya Y NY; Buzhilova, Alexandra P AP; Korobov, Dmitry S DS; Suppersberger Hamre, Stian S; Matos, Vitor M J VMJ; Ferreira, Maria T MT; González-Garrido, Laura L; Wasterlain, Sofia N SN; Lopes, Célia C; Santos, Ana Luisa AL; Antunes-Ferreira, Nathalie N; Duarte, Vitória V; Silva, Ana Maria AM; Melo, Linda L; Sarkic, Natasa N; Saag, Lehti L; Tambets, Kristiina K; Busso, Philippe P; Cole, Stewart T ST; Avlasovich, Alexei A; Roberts, Charlotte A CA; Sheridan, Alison A; Cessford, Craig C; Robb, John J; Krause, Johannes J; Scheib, Christiana L CL; Inskip, Sarah A SA; Schuenemann, Verena J VJ

Publication Date: 2021-10-05

Variant appearance in text: 225: 515C>T

PubMed Link: 34610848

Variant Present in the following documents:

• 12915_2021_1120_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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In vivo evolution of an emerging zoonotic bacterial pathogen in an immunocompromised human host.

Nature Communications

Launay, A A; Wu, C-J CJ; Dulanto Chiang, A A; Youn, J-H JH; Khil, P P PP; Dekker, J P JP

Publication Date: 2021-07-23

Variant appearance in text: 225: S172F

PubMed Link: 34301946

Variant Present in the following documents:

• 41467_2021_24668_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_24668_MOESM9_ESM.xlsx, sheet 9

View BVdb publication page

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The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology

Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A

Publication Date: 2021-02-05

Variant appearance in text: 225: 515C>T

PubMed Link: 33546694

Variant Present in the following documents:

• 12915_2021_962_MOESM4_ESM.xlsx, sheet 1

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: 225: 515C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science

Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA

Publication Date: 2020

Variant appearance in text: 225: 515C>T

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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A Global Map of G Protein Signaling Regulation by RGS Proteins.

Cell

Masuho, Ikuo I; Balaji, Santhanam S; Muntean, Brian S BS; Skamangas, Nickolas K NK; Chavali, Sreenivas S; Tesmer, John J G JJG; Babu, M Madan MM; Martemyanov, Kirill A KA

Publication Date: 2020-10-15

Variant appearance in text: 225: 515C>T

PubMed Link: 33007266

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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APOBEC3B-mediated corruption of the tumor cell immunopeptidome induces heteroclitic neoepitopes for cancer immunotherapy.

Nature Communications

Driscoll, Christopher B CB; Schuelke, Matthew R MR; Kottke, Timothy T; Thompson, Jill M JM; Wongthida, Phonphimon P; Tonne, Jason M JM; Huff, Amanda L AL; Miller, Amber A; Shim, Kevin G KG; Molan, Amy A; Wetmore, Cynthia C; Selby, Peter P; Samson, Adel A; Harrington, Kevin K; Pandha, Hardev H; Melcher, Alan A; Pulido, Jose S JS; Harris, Reuben R; Evgin, Laura L; Vile, Richard G RG

Publication Date: 2020-02-07

Variant appearance in text: 225: S172F

PubMed Link: 32034147

Variant Present in the following documents:

• 41467_2020_14568_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: 225: 515C>T

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 6

View BVdb publication page

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: 515C>T

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: EGR1: S172F

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Modeling cancer driver events in vitro using barrier bypass-clonal expansion assays and massively parallel sequencing.

Oncogene

Huskova, H H; Ardin, M M; Weninger, A A; Vargova, K K; Barrin, S S; Villar, S S; Olivier, M M; Stopka, T T; Herceg, Z Z; Hollstein, M M; Zavadil, J J; Korenjak, M M

Publication Date: 2017-10-26

Variant appearance in text: 225: S172F

PubMed Link: 28692054

Variant Present in the following documents:

• onc2017215x4.xls, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 515C>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of Symmetrical RNA Editing Events in the Mitochondria of Salvia miltiorrhiza by Strand-specific RNA Sequencing.

Scientific Reports

Wu, Bin B; Chen, Haimei H; Shao, Junjie J; Zhang, Hui H; Wu, Kai K; Liu, Chang C

Publication Date: 2017-02-10

Variant appearance in text: 225: S172F

PubMed Link: 28186130

Variant Present in the following documents:

• srep42250-s1.pdf

View BVdb publication page

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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: EGR1: 515C>T; S172F

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Joint mouse-human phenome-wide association to test gene function and disease risk.

Nature Communications

Wang, Xusheng X; Pandey, Ashutosh K AK; Mulligan, Megan K MK; Williams, Evan G EG; Mozhui, Khyobeni K; Li, Zhengsheng Z; Jovaisaite, Virginija V; Quarles, L Darryl LD; Xiao, Zhousheng Z; Huang, Jinsong J; Capra, John A JA; Chen, Zugen Z; Taylor, William L WL; Bastarache, Lisa L; Niu, Xinnan X; Pollard, Katherine S KS; Ciobanu, Daniel C DC; Reznik, Alexander O AO; Tishkov, Artem V AV; Zhulin, Igor B IB; Peng, Junmin J; Nelson, Stanley F SF; Denny, Joshua C JC; Auwerx, Johan J; Lu, Lu L; Williams, Robert W RW

Publication Date: 2016-02-02

Variant appearance in text: 225: S172F

PubMed Link: 26833085

Variant Present in the following documents:

• ncomms10464-s5.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: 225: S172F

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: EGR1: S172F

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: EGR1: S172F

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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