Publications:

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Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: RET: C630Y; rs377767405

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.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: RET: 1889G>A

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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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: RET: 1889G>A; Cys630Tyr

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).

The Korean Journal Of Internal Medicine

Lee, Ji-Young JY; Kim, Su Yeon SY; Jo, Kwan Hoon KH; Mo, Eun Yeong EY; Kim, Eun Sook ES; Kim, Hye Soo HS; Han, Je Ho JH; Moon, Sung-Dae SD

Publication Date: 2022-03

Variant appearance in text: RET: C630Y

PubMed Link: 34905813

Variant Present in the following documents:

• Main text
• kjim-2021-311.pdf

View BVdb publication page

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Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations.

Journal Of The Endocrine Society

Brown, Spandana J SJ; Riconda, Daniel L DL; Zheng, Feibi F; Jackson, Gilchrist L GL; Suo, Liye L; Robbins, Richard J RJ

Publication Date: 2020-04-01

Variant appearance in text: RET: Cys630Tyr

PubMed Link: 32190804

Variant Present in the following documents:

• Main text
• bvaa020.pdf

View BVdb publication page

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Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Genes

Elisei, Rossella R; Tacito, Alessia A; Ramone, Teresa T; Ciampi, Raffaele R; Bottici, Valeria V; Cappagli, Virginia V; Viola, David D; Matrone, Antonio A; Lorusso, Loredana L; Valerio, Laura L; Giani, Carlotta C; Campopiano, Cristina C; Prete, Alessandro A; Agate, Laura L; Molinaro, Eleonora E; Romei, Cristina C

Publication Date: 2019-09-10

Variant appearance in text: RET: C630Y

PubMed Link: 31510104

Variant Present in the following documents:

• Main text

View BVdb publication page

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A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency.

Plos Genetics

Pecce, Valeria V; Sponziello, Marialuisa M; Damante, Giuseppe G; Rosignolo, Francesca F; Durante, Cosimo C; Lamartina, Livia L; Grani, Giorgio G; Russo, Diego D; di Gioia, Cira Rosaria CR; Filetti, Sebastiano S; Verrienti, Antonella A

Publication Date: 2018-10

Variant appearance in text: RET: C630Y

PubMed Link: 30321177

Variant Present in the following documents:

• Main text
• pgen.1007678.pdf

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: RET: C630Y

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 2

View BVdb publication page

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Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer.

Endocrine Connections

Gerber, Tiemo S TS; Schad, Arno A; Hartmann, Nils N; Springer, Erik E; Zechner, Ulrich U; Musholt, Thomas J TJ

Publication Date: 2018-01

Variant appearance in text: RET: 1889G>A

PubMed Link: 29133385

Variant Present in the following documents:

• ec-7-47-t001.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HSCR1: C630Y

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: RET: C630Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: RET: C630Y

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: RET: C630Y

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2
• gkn1008_nar-01723-s-2008-File011.xls, sheet 2

View BVdb publication page

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RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

The Journal Of Molecular Diagnostics : Jmd

Margraf, Rebecca L RL; Mao, Rong R; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Wittwer, Carl T CT

Publication Date: 2007-04

Variant appearance in text: RET: C630Y

PubMed Link: 17384210

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

Japanese Journal Of Cancer Research : Gann

Uchino, S S; Noguchi, S S; Yamashita, H H; Sato, M M; Adachi, M M; Yamashita, H H; Watanabe, S S; Ohshima, A A; Mitsuyama, S S; Iwashita, T T; Takahashi, M M

Publication Date: 1999-11

Variant appearance in text: RET: C630Y

PubMed Link: 10622534

Variant Present in the following documents:

• CAS-90-1231.pdf

View BVdb publication page

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